From 867218f085a2a6a28809ed8db42d3fe496bec7ca Mon Sep 17 00:00:00 2001 From: April Shen Date: Mon, 13 May 2024 16:05:42 +0100 Subject: [PATCH 1/5] WIP - updates to EFO feedback --- bin/trait_mapping/create_efo_table.py | 1 + bin/trait_mapping/export_curation_table.py | 10 +++---- docs/manual-curation/README.md | 4 +-- .../step1-fetch-clinvar-data.md | 2 +- docs/manual-curation/step2-manual-curation.md | 13 +++++++-- docs/manual-curation/step3-export-results.md | 9 ++++-- .../step4-submit-efo-feedback.md | 10 ------- pipelines/export_curation_spreadsheet.nf | 28 ------------------- 8 files changed, 26 insertions(+), 51 deletions(-) delete mode 100644 docs/manual-curation/step4-submit-efo-feedback.md diff --git a/bin/trait_mapping/create_efo_table.py b/bin/trait_mapping/create_efo_table.py index 2783cc1b..9bdcb333 100644 --- a/bin/trait_mapping/create_efo_table.py +++ b/bin/trait_mapping/create_efo_table.py @@ -1,4 +1,5 @@ #!/usr/bin/env python3 +# TODO see if there's anything useful here before we remove it import argparse import re diff --git a/bin/trait_mapping/export_curation_table.py b/bin/trait_mapping/export_curation_table.py index 702f7d7c..cbb86b59 100644 --- a/bin/trait_mapping/export_curation_table.py +++ b/bin/trait_mapping/export_curation_table.py @@ -5,7 +5,7 @@ import pandas as pd -def export_table(input_filepath, done_filepath, import_filepath, comments_filepath): +def export_table(input_filepath, done_filepath, comments_filepath): curation_table = pd.read_csv(input_filepath, skiprows=1, header=0) # Finished mappings @@ -13,10 +13,10 @@ def export_table(input_filepath, done_filepath, import_filepath, comments_filepa done_rows = done_rows[['ClinVar label', 'URI of selected mapping', 'Label of selected mapping']] done_rows.to_csv(done_filepath, sep='\t', header=False, index=False) - # Terms for import + # Terms for import - TODO QC these instead import_rows = curation_table[curation_table['Status'] == 'IMPORT'] import_rows = import_rows['URI of selected mapping'] - import_rows.to_csv(import_filepath, header=False, index=False) + # import_rows.to_csv(import_filepath, header=False, index=False) # Comments column comment_rows = curation_table[curation_table['Comment'].notna() & curation_table['Status'].notna()] @@ -32,9 +32,7 @@ def export_table(input_filepath, done_filepath, import_filepath, comments_filepa help="path to input csv file") parser.add_argument("-d", dest="done_filepath", required=True, help="path to output file for terms that are done") - parser.add_argument("-m", dest="import_filepath", required=True, - help="path to output file for terms to import") parser.add_argument("-c", dest="comments_filepath", required=True, help="path to output file for curator comments") args = parser.parse_args() - export_table(args.input_filepath, args.done_filepath, args.import_filepath, args.comments_filepath) + export_table(args.input_filepath, args.done_filepath, args.comments_filepath) diff --git a/docs/manual-curation/README.md b/docs/manual-curation/README.md index 46b9835e..69c9491a 100644 --- a/docs/manual-curation/README.md +++ b/docs/manual-curation/README.md @@ -9,7 +9,6 @@ The protocol consists of four parts which are done in sequence by different peop 1. [**Fetch data**](step1-fetch-clinvar-data.md) (technical). The latest ClinVar data is downloaded and the trait names are extracted. They are attempted to be automatically mapped to ontology terms using ZOOMA. The traits which cannot be mapped automatically are output as a separate file, which is loaded into a Google spreadsheet. 1. [**Curate**](step2-manual-curation.md) (biological). The curator goes through the spreadsheet and fills it in, performing manual curation. Other people review the results and comment on them. 1. [**Extract results**](step3-export-results.md) (technical). Curation results are extracted from the spreadsheet into a TSV file. Some accompanying data is prepared for providing feedback to EFO. -1. [**Provide feedback**](step4-submit-efo-feedback.md) (biological). The curator, using the data generated on the previous steps, submits feedback to EFO and follows up on this. ## Setting up environment To follow the technical steps of the protocol, you will need to set up the environment. @@ -31,5 +30,6 @@ export CURATION_RELEASE_ROOT=${BATCH_ROOT_BASE}/manual_curation/${CURATION_RELEA * The number of traits in the `finished_mappings_curation.tsv` file is the same as in the spreadsheet after applying all relevant filters * _Important:_ spreadsheet does not contain line endings, or extraneous space symbols, in trait names (can be checked by a regexp search) * For submitting terms to EFO - + Cross-references has been populated for as many traits as possible + + Terms for import all have associated HP or MONDO IDs + + Information for new terms has been populated for as many traits as possible + GitHub issue has been created and linked in the issue diff --git a/docs/manual-curation/step1-fetch-clinvar-data.md b/docs/manual-curation/step1-fetch-clinvar-data.md index 6a2de020..15746c07 100644 --- a/docs/manual-curation/step1-fetch-clinvar-data.md +++ b/docs/manual-curation/step1-fetch-clinvar-data.md @@ -18,4 +18,4 @@ nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ ## Create a Google spreadsheet for curation -Duplicate a [template](https://docs.google.com/spreadsheets/d/1PyDzRs3bO1klvvSv9XuHmx-x7nqZ0UAGeS6aV2SQ2Yg/edit?usp=sharing). Paste the contents of `${CURATION_RELEASE_ROOT}/google_sheets_table.tsv` file into it, starting with column H “ClinVar label”. Example of a table fully populated with data can be found [here](https://docs.google.com/spreadsheets/d/1HQ08UQTpS-0sE9MyzdUPO7EihMxDb2e8N14s1BknjVo/edit?usp=sharing). +Duplicate a [template](https://docs.google.com/spreadsheets/d/1GWAQAZjOpzsIkdCu0CSRDoehZEUB3VjZYYiHWp9Tn7Q/edit?usp=sharing). Paste the contents of `${CURATION_RELEASE_ROOT}/google_sheets_table.tsv` file into it, starting with column H “ClinVar label”. Example of a table fully populated with data can be found [here](https://docs.google.com/spreadsheets/d/1HQ08UQTpS-0sE9MyzdUPO7EihMxDb2e8N14s1BknjVo/edit?usp=sharing). diff --git a/docs/manual-curation/step2-manual-curation.md b/docs/manual-curation/step2-manual-curation.md index 8bee3955..64186e1a 100644 --- a/docs/manual-curation/step2-manual-curation.md +++ b/docs/manual-curation/step2-manual-curation.md @@ -73,8 +73,6 @@ The “Status” column has the following acceptable values: * **SKIP** — trait is going to be skipped in this iteration, due to being too non-specific, or just having a low frequency * **UNSURE** — temporary status; traits to be discussed with reviewers/the team -Note that IMPORT and NEW terms are processed in Step 4, for now you should ignore the `Add EFO disease` tab within the manual curation spreadsheet and simply mark the status appropriately. - ### Comment field for curation review The "Comment" field can be used to enter arbitrary additional information which will be used by reviewers. Precede any text with initials e.g. "BK - example comment". Comments should be ordered chronologically in reverse: most recent ones at the top. Any comments will become available in the Notes field within the next iteration. @@ -89,3 +87,14 @@ This provision does _not_ apply to cases where the source string contains additi ### Note on spaces and line breaks Sometimes, especially when copy-pasting information from external sources, a mapping label or URL can contain an additional space symbol (at the beginning or end) or an accidental line break. This causes problems in the downstream processing and must be manually removed. To minimise the occurences of this, Google Sheets template includes a validation formula for the first two columns (“URI of selected mapping” and “Label of selected mapping”). If it detects an extra space symbol or a line break, the cell will be highlighted in red. + +## New terms + +Once a term has been marked as IMPORT or NEW, it will automatically show up in the corresponding "Add to EFO" worksheet. +Terms for import do not require any additional manual intervention, but new terms require some additional information, in particular: +* **Parent term** - Suggested parent term within EFO. This is required but does not need to be exact as it will be reviewed by EFO maintainers - a rough idea of the term hierarchy is acceptable. +* **Child terms** - Suggested children within EFO (if any), should be added if possible +* **Description, synonyms, PubMed IDs** - Should be added if possible, for example taken from OMIM or MedGen, but can be skipped if needed. +* **MedGen, OMIM** - Links to the specified resource, useful references if any of the above cannot be found + +Any additional comments can be left in the final column, they will be passed on to EFO. diff --git a/docs/manual-curation/step3-export-results.md b/docs/manual-curation/step3-export-results.md index ecaa08ad..5c1b7bab 100644 --- a/docs/manual-curation/step3-export-results.md +++ b/docs/manual-curation/step3-export-results.md @@ -24,11 +24,16 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ ### Duplication checks The automated pipeline checks for complete duplicates in the list of text-to-ontology mappings. If this check fails, resolve this by editing the `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv` file directly. +### Other QC checks +TODO + ## Check and correct known problematic mappings There is a [spreadsheet](https://docs.google.com/spreadsheets/d/1m4ld3y3Pfust5JSOJOX9ZmImRCKRGi-fGYj_dExoGj8/edit) which was created to track trait-to-ontology mappings which were especially problematic in the past to users of Open Targets platform. Prior to running subsequent steps, make sure that all traits mentioned in that spreadsheet are mapped to the correct ontology terms in `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv`. -## Copy the table for EFO import -The file `${CURATION_RELEASE_ROOT}/efo_import_table.tsv` will contain a partially ready table for EFO import. Copy its contents into the “Add EFO disease” sheet in the curation spreadsheet. +## Submit feedback to EFO +Tables for IMPORT and NEW terms will be created by curators during [step 2](step2-manual-curation.md). +Open a new git issue with EFO to review and import these novel trait names, e.g. [https://github.com/EBISPOT/efo/issues/1898](https://github.com/EBISPOT/efo/issues/1898). + ## Submit feedback to ZOOMA See more details on ZOOMA feedback in the [evidence string generation protocol](../generate-evidence-strings.md#submit-feedback-to-zooma). At this stage, only the **eva_clinvar** dataset is being submitted; clinvar_xrefs is submitted during evidence string generation. diff --git a/docs/manual-curation/step4-submit-efo-feedback.md b/docs/manual-curation/step4-submit-efo-feedback.md deleted file mode 100644 index b1ae0db5..00000000 --- a/docs/manual-curation/step4-submit-efo-feedback.md +++ /dev/null @@ -1,10 +0,0 @@ -# Manual curation, part IV, biological: submit feedback to EFO - -## IMPORT terms -The partially ready table for EFO import is available in the "Add EFO disease" sheet in the curation spreadsheet. The table needs to be amended manually: -* In some cases, terms will lack descriptions/parent terms/synonyms, because ontologies don't always contain these fields for a particular term. If possible, they should be added for all traits. They can be found by querying OLS using a cross reference entry (usually MONDO). A description for a term can also be found by using the terms "Description" from OMIM. - -Open a new git issue with EFO to review and import these novel trait names, e.g. [https://github.com/EBISPOT/efo/issues/1898](https://github.com/EBISPOT/efo/issues/1898). - -## NEW terms -Terms which don't have a suitable mapping cannot be added to the “Add EFO disease“ sheet and must be specified manually in PR description. diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 3b910eb5..6b53dcb3 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -45,7 +45,6 @@ workflow { checkDuplicates(mergeWithLatestMappings.out.newMappings) addMappingsHeader(checkDuplicates.out.duplicatesOk, mergeWithLatestMappings.out.newMappings, getTargetOntology.out.targetOntology) if (params.with_feedback) { - createEfoTable(exportTable.out.importTerms) generateZoomaFeedback(mergeWithLatestMappings.out.newMappings) updateLinks(addMappingsHeader.out.finalMappings, generateZoomaFeedback.out.zoomaFeedback) } @@ -65,7 +64,6 @@ process exportTable { output: path "finished_mappings_curation.tsv", emit: finishedMappings - path "terms_for_efo_import.txt", emit: importTerms path "curator_comments.tsv", emit: curatorComments script: @@ -73,7 +71,6 @@ process exportTable { \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/export_curation_table.py \ -i ${params.input_csv} \ -d finished_mappings_curation.tsv \ - -m terms_for_efo_import.txt \ -c curator_comments.tsv """ } @@ -142,31 +139,6 @@ process mergeWithLatestMappings { """ } -/* - * Prepare the table for EFO import. - */ -process createEfoTable { - label 'short_time' - label 'small_mem' - publishDir "${curationRoot}", - overwrite: true, - mode: "copy", - pattern: "*.tsv" - - input: - path importTerms - - output: - path "efo_import_table.tsv", emit: efoImportTable - - script: - """ - \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/create_efo_table.py \ - -i ${importTerms} \ - -o efo_import_table.tsv - """ -} - /* * Generate ZOOMA feedback. */ From f8220484d15531a946829210ef08ec312a2f7fe1 Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 14 May 2024 13:46:43 +0100 Subject: [PATCH 2/5] clean-up code and readme, update tests --- bin/trait_mapping/create_efo_table.py | 164 ------- bin/trait_mapping/export_curation_table.py | 5 - docs/manual-curation/step2-manual-curation.md | 5 +- docs/manual-curation/step3-export-results.md | 3 - .../expected/automated_trait_mappings.tsv | 447 ++++++++--------- .../expected/google_sheets_table.tsv | 18 +- .../trait_names_to_ontology_mappings.tsv | 451 ++++++++---------- 7 files changed, 403 insertions(+), 690 deletions(-) delete mode 100644 bin/trait_mapping/create_efo_table.py diff --git a/bin/trait_mapping/create_efo_table.py b/bin/trait_mapping/create_efo_table.py deleted file mode 100644 index 9bdcb333..00000000 --- a/bin/trait_mapping/create_efo_table.py +++ /dev/null @@ -1,164 +0,0 @@ -#!/usr/bin/env python3 -# TODO see if there's anything useful here before we remove it - -import argparse -import re -import requests - -from cmat.trait_mapping.ols import OLS_SERVER -from requests import HTTPError -from retry import retry - -# Name of ontology in OLS url, e. g. https://www.ebi.ac.uk/ols/ontologies/ordo/terms?iri=... -ontology_to_ols = { - 'HP': 'hp', - 'MONDO': 'mondo', - 'Orphanet': 'ordo', -} - -# List of fields in the current version of Webulous submission template -webulous_fields = [ - 'disease', 'child_of', 'definition', 'synonyms', 'located_in_organ', 'located_in_cell', - 'biological_process', 'msh_def_cite', 'ncit_def_cite', 'snomedct_def_cite', 'icd9_def_cite', - 'icd10_def_cite', 'omim_def_cite', 'doid_def_cite', 'meddra_def_cite', 'umls_def_cite', - 'wikipedia_def_cite', 'comments', 'ordo_def_cite', 'definition_editor', 'definition_citation', - 'mondo_def_cite' -] -webulous_format_string = '\t'.join('{' + f + '}' for f in webulous_fields) + '\n' - -# String to join multiple values in a Webulous template -webulous_joiner = ' || ' - - -def ols_url_template(ontology, term): - # OLS url to query for a term details - return f'{OLS_SERVER}/api/ontologies/{ontology}/terms?iri={term}' - - -def oxo_url_template(curie): - # OxO url to query ontology cross-references - return f'https://www.ebi.ac.uk/spot/oxo/api/search?ids={curie}&distance=1&size=500' - - -def get_parent_terms(url): - return [term['label'] for term in requests.get(url).json()['_embedded']['terms']] - - -def uri_to_curie(uri): - """Converts URI to curie (short identifier). - - Args: - uri: a full URI of an ontology term, e. g. http://purl.obolibrary.org/obo/MONDO_0009796. URIs are globally - unique among all ontologies (and even other internet resources). - - Returns: - curie: a short identifier (Compact URI) which contains an ontology prefix and identifier in that ontology. - Example: MONDO:0009796. See also: http://www.obofoundry.org/docs/Citation.html - """ - return uri.split('/')[-1].replace('#', '').replace('_', ':') - - -@retry(HTTPError, tries=4, delay=2, backoff=1.2, jitter=(1, 3)) -def get_cross_references(curie): - """Queries OxO to return the list of cross-references for a given term curie.""" - url = oxo_url_template(curie=curie) - response = requests.get(url) - response.raise_for_status() - json_response = response.json() - if '_embedded' not in json_response: - raise ValueError('Warning: OxO error for term {}. No cross-links will be available for this term. ' - 'See https://github.com/EBISPOT/OXO/issues/26'.format(curie)) - mappings = json_response['_embedded']['searchResults'][0]['mappingResponseList'] - return [m['curie'] for m in mappings] - - -def get_ols_details(ontology, term): - """Queries OLS and returns the details necessary for the EFO import table construction.""" - url = ols_url_template(ontology=ontology, term=term) - data = requests.get(url).json()['_embedded']['terms'][0] - label = data['label'] - parents = get_parent_terms(data['_links']['parents']['href']) - - # Definition: first, try to get from annotation field - definition = data['annotation'].get('definition', [''])[0] - # If no luck, simply use a description - if not definition and data['description']: - definition = data['description'][0] - - synonyms = data['synonyms'] or [] - - # Cross-references - term_curie = uri_to_curie(term) - xrefs = {} - try: - oxo_xrefs = get_cross_references(term_curie) - except (HTTPError, ValueError) as e: - print('Warning: OxO error for term {}. No cross-links will be available for this term.'.format(term_curie)) - oxo_xrefs = [] - for x in oxo_xrefs: - xref_ontology, xref_id = re.split('[_:]', x) - xrefs.setdefault(xref_ontology, set()).add('{}:{}'.format(xref_ontology, xref_id)) - - # If a term comes from either Orphanet or MONDO, we need to add these as xrefs as well - # (since they won't be present in the normal list of xrefs). - if ontology == 'mondo': - xrefs.setdefault('MONDO', set()).add(term.split('/')[-1].replace('_', ':')) - elif ontology == 'ordo': - xrefs.setdefault('Orphanet', set()).add(term.split('/')[-1].replace('_', ':')) - - return label, parents, definition, synonyms, xrefs - - -def format_xref(xrefs, ontology): - if ontology not in xrefs: - return '' - return webulous_joiner.join(sorted(xrefs[ontology])) - - -def format_output_string(ontology, term): - label, parents, definition, synonyms, xrefs = get_ols_details(ontology, term) - - return webulous_format_string.format( - disease=label, - child_of=webulous_joiner.join(parents), - definition=definition, - synonyms=webulous_joiner.join(synonyms), - located_in_organ='', - located_in_cell='', - biological_process='', - msh_def_cite=format_xref(xrefs, 'MeSH'), - ncit_def_cite=format_xref(xrefs, 'NCIT'), - snomedct_def_cite='', - icd9_def_cite='', - icd10_def_cite='', - omim_def_cite=format_xref(xrefs, 'OMIM'), - doid_def_cite=format_xref(xrefs, 'DOID'), - meddra_def_cite='', - umls_def_cite=format_xref(xrefs, 'UMLS'), - wikipedia_def_cite='', - comments='', - ordo_def_cite=format_xref(xrefs, 'Orphanet'), - definition_editor='', - definition_citation='', - mondo_def_cite=format_xref(xrefs, 'MONDO'), - ) - - -def create_efo_table(input_file_path, output_file_path): - with open(input_file_path) as infile, open(output_file_path, 'w') as outfile: - for line in infile: - term = line.rstrip() - print('Processing ' + term) - ontology = ontology_to_ols[re.split('[:_]', term.split('/')[-1])[0]] - result = format_output_string(ontology, term) - outfile.write(result) - - -if __name__ == '__main__': - parser = argparse.ArgumentParser() - parser.add_argument('-i', '--input-mappings', required=True, - help='Input file with ontology mappings') - parser.add_argument('-o', '--output', required=True, - help='Output table for EFO import') - args = parser.parse_args() - create_efo_table(args.input_mappings, args.output) diff --git a/bin/trait_mapping/export_curation_table.py b/bin/trait_mapping/export_curation_table.py index cbb86b59..102e886f 100644 --- a/bin/trait_mapping/export_curation_table.py +++ b/bin/trait_mapping/export_curation_table.py @@ -13,11 +13,6 @@ def export_table(input_filepath, done_filepath, comments_filepath): done_rows = done_rows[['ClinVar label', 'URI of selected mapping', 'Label of selected mapping']] done_rows.to_csv(done_filepath, sep='\t', header=False, index=False) - # Terms for import - TODO QC these instead - import_rows = curation_table[curation_table['Status'] == 'IMPORT'] - import_rows = import_rows['URI of selected mapping'] - # import_rows.to_csv(import_filepath, header=False, index=False) - # Comments column comment_rows = curation_table[curation_table['Comment'].notna() & curation_table['Status'].notna()] comment_rows = comment_rows[['ClinVar label', 'Comment']].astype(str) diff --git a/docs/manual-curation/step2-manual-curation.md b/docs/manual-curation/step2-manual-curation.md index 64186e1a..f4502338 100644 --- a/docs/manual-curation/step2-manual-curation.md +++ b/docs/manual-curation/step2-manual-curation.md @@ -89,12 +89,11 @@ This provision does _not_ apply to cases where the source string contains additi Sometimes, especially when copy-pasting information from external sources, a mapping label or URL can contain an additional space symbol (at the beginning or end) or an accidental line break. This causes problems in the downstream processing and must be manually removed. To minimise the occurences of this, Google Sheets template includes a validation formula for the first two columns (“URI of selected mapping” and “Label of selected mapping”). If it detects an extra space symbol or a line break, the cell will be highlighted in red. ## New terms - Once a term has been marked as IMPORT or NEW, it will automatically show up in the corresponding "Add to EFO" worksheet. Terms for import do not require any additional manual intervention, but new terms require some additional information, in particular: * **Parent term** - Suggested parent term within EFO. This is required but does not need to be exact as it will be reviewed by EFO maintainers - a rough idea of the term hierarchy is acceptable. -* **Child terms** - Suggested children within EFO (if any), should be added if possible +* **Child terms** - Suggested children within EFO (if any), should be added if possible. * **Description, synonyms, PubMed IDs** - Should be added if possible, for example taken from OMIM or MedGen, but can be skipped if needed. -* **MedGen, OMIM** - Links to the specified resource, useful references if any of the above cannot be found +* **MedGen, OMIM** - Links to the specified resource, useful references if any of the above cannot be found. These are often present in the "Suggested exact mapping" column. Any additional comments can be left in the final column, they will be passed on to EFO. diff --git a/docs/manual-curation/step3-export-results.md b/docs/manual-curation/step3-export-results.md index 5c1b7bab..3bc2b679 100644 --- a/docs/manual-curation/step3-export-results.md +++ b/docs/manual-curation/step3-export-results.md @@ -24,9 +24,6 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ ### Duplication checks The automated pipeline checks for complete duplicates in the list of text-to-ontology mappings. If this check fails, resolve this by editing the `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv` file directly. -### Other QC checks -TODO - ## Check and correct known problematic mappings There is a [spreadsheet](https://docs.google.com/spreadsheets/d/1m4ld3y3Pfust5JSOJOX9ZmImRCKRGi-fGYj_dExoGj8/edit) which was created to track trait-to-ontology mappings which were especially problematic in the past to users of Open Targets platform. Prior to running subsequent steps, make sure that all traits mentioned in that spreadsheet are mapped to the correct ontology terms in `${BATCH_ROOT_BASE}/manual_curation/latest_mappings.tsv`. diff --git a/tests/pipelines/resources/expected/automated_trait_mappings.tsv b/tests/pipelines/resources/expected/automated_trait_mappings.tsv index 3d6ad4bd..055f465a 100644 --- a/tests/pipelines/resources/expected/automated_trait_mappings.tsv +++ b/tests/pipelines/resources/expected/automated_trait_mappings.tsv @@ -1,23 +1,24 @@ #clinvar_trait_name uri label -3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency -3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome -46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis -abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration +2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria +3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-coa carboxylase 2 deficiency +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0020712 46,xy sex reversal 1 +abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 abnormality of neuronal migration achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome -acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 acromicric dysplasia actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 -acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtdna-encoded proteins acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy -aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009165 aicardi-goutieres syndrome 1 aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 -alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation -alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome -alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 aicardi-goutieres syndrome 7 +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 alagille syndrome due to a jag1 point mutation +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 alport syndrome +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 alstrom syndrome amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis @@ -25,46 +26,44 @@ amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporad amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia -anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to g6pd deficiency ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy -aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma -arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 -asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder -atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 5 http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 3 http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, x-linked 3 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 -autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1f autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity -autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, beauce type autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 -autosomal recessive distal spinal muscular atrophy 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 -autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B -autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J -autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q -autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2b +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2j +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2q +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2y autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive @@ -72,30 +71,28 @@ autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/ autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia -autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome -baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome -bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome -bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 -bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive robinow syndrome +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 baller-gerold syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 bap1-related tumor predisposition syndrome +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 bardet-biedl syndrome +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 bardet-biedl syndrome 10 +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 bardet-biedl syndrome 14 bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 -becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy -beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 becker muscular dystrophy +beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 beckwith-wiedemann syndrome biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome -bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome -borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 bloom syndrome +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 borjeson-forssman-lehmann syndrome breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 -breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 -breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome -brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy -brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 brody myopathy +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 brugada syndrome brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma @@ -103,9 +100,9 @@ carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy -cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system -carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1a deficiency cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract @@ -114,63 +111,58 @@ cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-ons cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia -charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease -charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O -charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O -charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S -charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B -charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 -charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 -charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 -charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 charcot-marie-tooth disease +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 charcot-marie-tooth disease axonal type 2o +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 charcot-marie-tooth disease axonal type 2s +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 charcot-marie-tooth disease dominant intermediate b +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 charcot-marie-tooth disease type 2 +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 charcot-marie-tooth disease type 2e +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 charcot-marie-tooth disease type 4 +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 charcot-marie-tooth disease type 4b2 +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 charcot-marie-tooth disease type 4h charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome -chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1 +chitotriosidase deficiency http://www.ebi.ac.uk/efo/EFO_0022489 chitotriosidase deficiency chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis -chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis -chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia -chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 chuvash polycythemia +chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 chédiak-higashi syndrome cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation -cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 cohen syndrome collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to stim1 deficiency combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia -compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy -compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 compton-north congenital myopathy cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from cftr mutation congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency -congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 -congenital myasthenic syndrome 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores -corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, fuchs endothelial, 3 cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome -costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome -cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 costello syndrome +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 cowden syndrome 6 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease @@ -180,43 +172,35 @@ deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obol desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 -developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 -developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG -developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0014917 developmental and epileptic encephalopathy, 42 developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia -dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +dicer1 syndrome http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome -dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy -dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1dd +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1g +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1j +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1kk dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1w dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy -dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency -duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 dock2 deficiency +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 duchenne muscular dystrophy ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma -dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 dyrk1a-related intellectual disability syndrome dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder @@ -227,39 +211,34 @@ early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MO early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome -egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 eem syndrome +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 egfr-related lung cancer ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type -ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome -emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 ellis-van creveld syndrome +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 emery-dreifuss muscular dystrophy 4, autosomal dominant emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer -endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm -enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced s-cone syndrome epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis -epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency -epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy -epidermolysis bullosa simplex 5b, with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy -epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia -epidermolysis bullosa simplex 5c, with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia -epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex -epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement +epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency +epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5b, with muscular dystrophy +epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5c, with pyloric atresia +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 epidermolysis bullosa simplex, ogna type epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 -epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 epileptic encephalopathy episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 -episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia -erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 -exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy -factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor v deficiency familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma -familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation -familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia +familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 familial dysautonomia familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis @@ -267,270 +246,245 @@ familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial mediterranean fever familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia -fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C -fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 fanconi anemia +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 fanconi anemia complementation group c +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 fanconi anemia complementation group j fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 farber lipogranulomatosis fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fg syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010590 fg syndrome 1 fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal -fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile x syndrome +frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease -generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia +generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 +generalized epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 generalized hypotonia gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes -glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 -global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 glanzmann thrombasthenia 1 +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 global developmental delay glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V -gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy -gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 gne myopathy growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome -hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma -hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 -hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 -hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 -hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 -hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 -hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 -hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 -hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 -hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 -herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 -herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant -heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, x-linked dominant history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism -hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase va deficiency hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 hyperglycinuria hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 1 http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis +hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis -immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease -immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 immunodeficiency +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 -immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis +inflammatory bowel disease 1 http://purl.obolibrary.org/obo/MONDO_0009960 inflammatory bowel disease 1 inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 -intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 intellectual disability intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome -intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 -intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia -isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Diffuse palmoplantar keratoderma, Bothnian type isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 joubert syndrome joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 joubert syndrome 38 joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 -koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome -lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease -lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 kleefstra syndrome 2 +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 koolen-de vries syndrome +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 lafora disease +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 lama2-related muscular dystrophy lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency -landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy -large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age -larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +landau-kleffner syndrome http://www.ebi.ac.uk/efo/EFO_1001010 landau-kleffner syndrome +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 large for gestational age +larsen syndrome http://purl.obolibrary.org/obo/MONDO_0007875 larsen syndrome leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly -long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-coa dehydrogenase deficiency long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome -lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +long qt syndrome 1 http://purl.obolibrary.org/obo/MONDO_0100316 long qt syndrome 1 +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 luscan-lumish syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 lynch syndrome lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 -malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia -marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 marfan syndrome meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 -megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy -melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 megf10-related myopathy +melnick-needles syndrome http://purl.obolibrary.org/obo/MONDO_0010650 melnick-needles syndrome menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia -methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency -mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I -microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 mhc class i deficiency +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type ii microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus +monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A -multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-coa dehydrogenase deficiency multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy -myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 myh7-related skeletal myopathy myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure -myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure -nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 nance-horan syndrome nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome -neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome -neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome -neuroblastoma, susceptibility to, 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma -neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 netherton syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 neu-laxova syndrome 2 +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 -neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 neurodevelopmental disorder neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 -neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 -neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease -neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 -neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0012080 neuronopathy, distal hereditary motor, type 2b +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7b neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 -neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type 2c neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy -noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0013186 noonan syndrome 6 normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy -norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome -norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 norman-roberts syndrome obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome -oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency -ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 -paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg +paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of von eulenburg parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma -parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia -peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome -peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome +peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder +peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10a (zellweger) +peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5a (zellweger) +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 perry syndrome +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 peutz-jeghers syndrome pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation -pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome -pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency -pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 pharc syndrome +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 phgdh deficiency +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 pierpont syndrome pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome -pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 pitt-hopkins syndrome pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb -polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +premature ovarian failure 1 http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 primary amenorrhea primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia @@ -544,21 +498,17 @@ prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase defi propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum -pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum -psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis -pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome -pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 -pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension -pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 pseudoxanthoma elasticum +psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 pten hamartoma tumor syndrome +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to myd88 deficiency rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration -retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal dystrophy http://purl.obolibrary.org/obo/HP_0000556 retinal dystrophy retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa @@ -567,72 +517,71 @@ retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis p retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma -rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 rett syndrome rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 rubinstein-taybi syndrome ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly -schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 schimke immuno-osseous dysplasia schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy -schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome -seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 schwartz-jampel syndrome +seizure http://purl.obolibrary.org/obo/HP_0001250 seizure seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum -severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to dna-pkcs deficiency severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +severe myoclonic epilepsy in infancy http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly -severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome -short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency -singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +short stature http://purl.obolibrary.org/obo/HP_0004322 short stature +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 singleton-merten syndrome 1 skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 -spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 spastic paraplegia spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome -spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 -spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type +spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, kozlowski type squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma -stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 stargardt disease steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy -stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome -sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency -teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 stormorken syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type c +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 t-cell immunodeficiency, congenital alopecia, and nail dystrophy +teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 teebi hypertelorism syndrome 1 telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency +tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin ii deficiency treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome -troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 troyer syndrome tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 -usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 usher syndrome +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 usher syndrome type 1 usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A -uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma -very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency -visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 usher syndrome type 2a +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 uterine carcinosarcoma +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-coa dehydrogenase deficiency +visual impairment http://purl.obolibrary.org/obo/HP_0000505 visual impairment von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease -weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome -weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive -weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 weaver syndrome +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 weill-marchesani 4 syndrome, recessive wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome -x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 -x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 x-linked distal spinal muscular atrophy type 3 +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 x-linked myopathy with postural muscle atrophy xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency diff --git a/tests/pipelines/resources/expected/google_sheets_table.tsv b/tests/pipelines/resources/expected/google_sheets_table.tsv index aeb27817..792c2bbe 100644 --- a/tests/pipelines/resources/expected/google_sheets_table.tsv +++ b/tests/pipelines/resources/expected/google_sheets_table.tsv @@ -1,18 +1,8 @@ -nephronophthisis 2 NT expansion http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT -gc1/gc2 polymorphism 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0010739|Taqi polymorphism|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_118803|solute carrier family 25 member 22|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0009826|PA polymorphism of alpha-2-globulin|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_122340|guanylate cyclase 2D, retinal|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED +gc1/gc2 polymorphism 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0010739|Taqi polymorphism|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_118803|solute carrier family 25 member 22|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0009826|PA polymorphism of alpha-2-globulin|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_122340|guanylate cyclase 2D, retinal|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED inherited immunodeficiency diseases 2 http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/mesh/D000081207|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED -peroxisome biogenesis disorder 5a (zellweger) 2 http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|cttv|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT https://www.omim.org/entry/614866|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C3553940|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED -frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT -chitotriosidase deficiency 1 http://purl.obolibrary.org/obo/MONDO_0013586|Chitotriosidase deficiency|NOT_SPECIFIED|previously-used|EFO_OBSOLETE congenital muscular dystrophy, alpha-dystroglycan related 1 http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED corneal dystrophy, recessive 1 http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED -peroxisome biogenesis disorder 10a (zellweger) 1 http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT http://identifiers.org/medgen/C3553999|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED https://www.omim.org/entry/614882|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED -severe myoclonic epilepsy in infancy 1 http://www.orpha.net/ORDO/Orphanet_33069|Dravet syndrome|NOT_SPECIFIED|previously-used|EFO_OBSOLETE http://purl.obolibrary.org/obo/MONDO_0014960|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|NOT_SPECIFIED|replacement|NOT_CONTAINED http://www.ebi.ac.uk/efo/EFO_1001900|myoclonic epilepsy|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0002123|Generalized myoclonic seizure|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0100079|developmental and epileptic encephalopathy, 6|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0011170|Generalized myoclonic-atonic seizure|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0100135|Dravet syndrome|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0014328|developmental and epileptic encephalopathy, 19|2|Orphanet:33069|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0012812|developmental and epileptic encephalopathy, 4|2|Orphanet:33069|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0100062|developmental and epileptic encephalopathy|3|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0016022|early myoclonic encephalopathy|3|Orphanet:33069|EFO_CURRENT isolated nonsyndromic congenital heart disease 1 http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED -hypogonadotropic hypogonadism 3 with or without anosmia 1 http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT http://identifiers.org/medgen/C3550478|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED https://www.omim.org/entry/244200|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED -elfn1-related condition 1 http://purl.obolibrary.org/obo/MONDO_0045054|cancer-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0021074|precancerous condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0025256|Ameliorated by heat|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0032522|Ameliorated by immunosuppresion|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_568065|EPHB4-related lymphatic-related hydrops fetalis|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED -chédiak-higashi syndrome 1 http://www.orpha.net/ORDO/Orphanet_167|Chédiak-Higashi syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT -2-aminoadipic 2-oxoadipic aciduria 1 http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|EFO_CURRENT https://www.omim.org/entry/204750|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C1859817|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED -tp63-related spectrum disorders 1 http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED -autosomal dominant kcnq1-related disease 1 http://purl.obolibrary.org/obo/MONDO_0018832|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0000426|autosomal dominant disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_482077|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_497757|MME-related autosomal dominant Charcot Marie Tooth disease type 2|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0000006|Autosomal dominant inheritance|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED -simvastatin response - toxicity 1 http://www.orpha.net/ORDO/Orphanet_240913|OBSOLETE: Simvastatin toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_529831|Letrozole toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0027653|abacavir toxicity|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0023176|formaldehyde poisoning|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED +elfn1-related condition 1 http://purl.obolibrary.org/obo/MONDO_0045054|cancer-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0021074|precancerous condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0025256|Ameliorated by heat|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0032522|Ameliorated by immunosuppresion|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_568065|EPHB4-related lymphatic-related hydrops fetalis|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED +autosomal dominant kcnq1-related disease 1 http://purl.obolibrary.org/obo/MONDO_0018832|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0000426|autosomal dominant disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0000006|Autosomal dominant inheritance|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_482077|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_497757|MME-related autosomal dominant Charcot Marie Tooth disease type 2|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED +simvastatin response - toxicity 1 http://www.ebi.ac.uk/efo/EFO_0011048|dermatological toxicity|MEDIUM|http://www.ebi.ac.uk/efo/efo.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_529831|Letrozole toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0010784|chloramphenicol toxicity|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_565782|Methotrexate toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0023176|formaldehyde poisoning|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED diff --git a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv index d328fd46..47f27f12 100644 --- a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -1,26 +1,27 @@ -#generated-date=2023-12-13 +#generated-date=2024-05-14 #ontology=EFO #clinvar_trait_name uri label 2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria -3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency -3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome -46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis -abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration +2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria +3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-coa carboxylase 2 deficiency +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0020712 46,xy sex reversal 1 +abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 abnormality of neuronal migration achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome -acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 acromicric dysplasia actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 -acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtdna-encoded proteins acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy -aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009165 aicardi-goutieres syndrome 1 aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 -alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation -alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome -alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 aicardi-goutieres syndrome 7 +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 alagille syndrome due to a jag1 point mutation +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 alport syndrome +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 alstrom syndrome amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis @@ -28,46 +29,44 @@ amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporad amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia -anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to g6pd deficiency ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy -aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma -arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 -asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder -atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 5 http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 3 http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, x-linked 3 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 -autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1f autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity -autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, beauce type autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 -autosomal recessive distal spinal muscular atrophy 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 -autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B -autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J -autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q -autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2b +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2j +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2q +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2y autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive @@ -75,30 +74,28 @@ autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/ autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia -autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome -baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome -bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome -bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 -bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive robinow syndrome +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 baller-gerold syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 bap1-related tumor predisposition syndrome +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 bardet-biedl syndrome +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 bardet-biedl syndrome 10 +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 bardet-biedl syndrome 14 bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 -becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy -beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 becker muscular dystrophy +beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 beckwith-wiedemann syndrome biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome -bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome -borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 bloom syndrome +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 borjeson-forssman-lehmann syndrome breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 -breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 -breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome -brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy -brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 brody myopathy +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 brugada syndrome brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma @@ -106,9 +103,9 @@ carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy -cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system -carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1a deficiency cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract @@ -117,64 +114,59 @@ cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-ons cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia -charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease -charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O -charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O -charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S -charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B -charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 -charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 -charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 -charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 charcot-marie-tooth disease +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 charcot-marie-tooth disease axonal type 2o +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 charcot-marie-tooth disease axonal type 2s +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 charcot-marie-tooth disease dominant intermediate b +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 charcot-marie-tooth disease type 2 +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 charcot-marie-tooth disease type 2e +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 charcot-marie-tooth disease type 4 +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 charcot-marie-tooth disease type 4b2 +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 charcot-marie-tooth disease type 4h charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome -chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1 +chitotriosidase deficiency http://www.ebi.ac.uk/efo/EFO_0022489 chitotriosidase deficiency chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis -chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis -chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia -chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 chuvash polycythemia chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome +chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 chédiak-higashi syndrome cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation -cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 cohen syndrome collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to stim1 deficiency combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia -compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy -compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 compton-north congenital myopathy cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from cftr mutation congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency -congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 -congenital myasthenic syndrome 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores -corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, fuchs endothelial, 3 cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome -costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome -cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 costello syndrome +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 cowden syndrome 6 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease @@ -184,43 +176,35 @@ deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obol desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 -developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 -developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG -developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0014917 developmental and epileptic encephalopathy, 42 developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia -dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +dicer1 syndrome http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome -dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy -dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1dd +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1g +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1j +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1kk dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1w dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy -dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency -duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 dock2 deficiency +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 duchenne muscular dystrophy ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma -dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 dyrk1a-related intellectual disability syndrome dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder @@ -231,39 +215,34 @@ early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MO early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome -egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 eem syndrome +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 egfr-related lung cancer ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type -ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome -emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 ellis-van creveld syndrome +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 emery-dreifuss muscular dystrophy 4, autosomal dominant emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer -endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm -enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced s-cone syndrome epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis -epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency -epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy -epidermolysis bullosa simplex 5b, with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy -epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia -epidermolysis bullosa simplex 5c, with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia -epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex -epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement +epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency +epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5b, with muscular dystrophy +epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5c, with pyloric atresia +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 epidermolysis bullosa simplex, ogna type epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 -epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 epileptic encephalopathy episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 -episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia -erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 -exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy -factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor v deficiency familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma -familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation -familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia +familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 familial dysautonomia familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis @@ -271,95 +250,82 @@ familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial mediterranean fever familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia -fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C -fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 fanconi anemia +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 fanconi anemia complementation group c +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 fanconi anemia complementation group j fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 farber lipogranulomatosis fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fg syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010590 fg syndrome 1 fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal -fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile x syndrome frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease -generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia +generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 +generalized epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 generalized hypotonia gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes -glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 -global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 glanzmann thrombasthenia 1 +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 global developmental delay glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V -gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy -gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 gne myopathy growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome -hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma -hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 -hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 -hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 -hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 -hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 -hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 -hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 -hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 -hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 -herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 -herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant -heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, x-linked dominant history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism -hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase va deficiency hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 hyperglycinuria hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 1 http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 @@ -367,179 +333,167 @@ hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hyper hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia +hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis -immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease -immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 immunodeficiency +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 -immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis +inflammatory bowel disease 1 http://purl.obolibrary.org/obo/MONDO_0009960 inflammatory bowel disease 1 inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 -intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 intellectual disability intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome -intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 -intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia -isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Diffuse palmoplantar keratoderma, Bothnian type isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 joubert syndrome joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 joubert syndrome 38 joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 -koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome -lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease -lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 kleefstra syndrome 2 +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 koolen-de vries syndrome +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 lafora disease +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 lama2-related muscular dystrophy lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency -landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy -large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age -larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +landau-kleffner syndrome http://www.ebi.ac.uk/efo/EFO_1001010 landau-kleffner syndrome +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 large for gestational age +larsen syndrome http://purl.obolibrary.org/obo/MONDO_0007875 larsen syndrome leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly -long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-coa dehydrogenase deficiency long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome -lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +long qt syndrome 1 http://purl.obolibrary.org/obo/MONDO_0100316 long qt syndrome 1 +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 luscan-lumish syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 lynch syndrome lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 -malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia -marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 marfan syndrome meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 -megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy -melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 megf10-related myopathy +melnick-needles syndrome http://purl.obolibrary.org/obo/MONDO_0010650 melnick-needles syndrome menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia -methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency -mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I -microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 mhc class i deficiency +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type ii microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus +monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A -multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-coa dehydrogenase deficiency multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy -myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 myh7-related skeletal myopathy myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure -myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure -nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 nance-horan syndrome nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome -neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome -neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome -neuroblastoma, susceptibility to, 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma -neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 netherton syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 neu-laxova syndrome 2 +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 -neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 neurodevelopmental disorder neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 -neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 -neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease -neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 -neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0012080 neuronopathy, distal hereditary motor, type 2b +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7b neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 -neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type 2c neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy -noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0013186 noonan syndrome 6 normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy -norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome -norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 norman-roberts syndrome obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome -oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency -ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 -paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg +paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of von eulenburg parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma -parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia -peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) +peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10a (zellweger) peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) -perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome -peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome +peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5a (zellweger) +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 perry syndrome +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 peutz-jeghers syndrome pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation -pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome -pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency -pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 pharc syndrome +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 phgdh deficiency +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 pierpont syndrome pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome -pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 pitt-hopkins syndrome pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb -polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +premature ovarian failure 1 http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 primary amenorrhea primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia @@ -553,21 +507,17 @@ prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase defi propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum -pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum -psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis -pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome -pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 -pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension -pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 pseudoxanthoma elasticum +psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 pten hamartoma tumor syndrome +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to myd88 deficiency rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration -retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal dystrophy http://purl.obolibrary.org/obo/HP_0000556 retinal dystrophy retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa @@ -576,73 +526,72 @@ retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis p retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma -rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 rett syndrome rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 rubinstein-taybi syndrome ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly -schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 schimke immuno-osseous dysplasia schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy -schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome -seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 schwartz-jampel syndrome +seizure http://purl.obolibrary.org/obo/HP_0001250 seizure seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum -severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to dna-pkcs deficiency severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +severe myoclonic epilepsy in infancy http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly -severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome -short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency -singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +short stature http://purl.obolibrary.org/obo/HP_0004322 short stature +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 singleton-merten syndrome 1 skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 -spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 spastic paraplegia spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome -spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 -spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type +spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, kozlowski type squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma -stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 stargardt disease steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy -stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome -sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency -teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 stormorken syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type c +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 t-cell immunodeficiency, congenital alopecia, and nail dystrophy +teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 teebi hypertelorism syndrome 1 telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency +tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin ii deficiency treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome -troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 troyer syndrome tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 -usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 usher syndrome +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 usher syndrome type 1 usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A -uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma -very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency -visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 usher syndrome type 2a +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 uterine carcinosarcoma +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-coa dehydrogenase deficiency +visual impairment http://purl.obolibrary.org/obo/HP_0000505 visual impairment von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease -weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome -weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive -weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 weaver syndrome +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 weill-marchesani 4 syndrome, recessive wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome -x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 -x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 x-linked distal spinal muscular atrophy type 3 +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 x-linked myopathy with postural muscle atrophy xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency 3 methylcrotonyl-coa carboxylase 1 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency @@ -911,7 +860,6 @@ charlevoix-saguenay spastic ataxia http://www.orpha.net/ORDO/Orphanet_98 Autosom chediak-higashi syndrome, childhood type http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome chilblain lupus http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus chilblain lupus 2 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus -chitotriosidase deficiency http://purl.obolibrary.org/obo/MONDO_0013586 Chitotriosidase deficiency chondroectodermal dysplasia http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome choreaacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis choreoacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis @@ -2174,7 +2122,6 @@ senior-loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loke senior-loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome senior-loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome senior-loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -severe myoclonic epilepsy in infancy http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome short rib polydactyly syndrome 5 http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome, majewski type http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type short rib-polydactyly syndrome, verma-naumoff type http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type From 70adecc5392ba4566d04d2be95ce74911f6774e0 Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 14 May 2024 14:07:56 +0100 Subject: [PATCH 3/5] remove unneeded test file --- tests/trait_mapping/test_create_efo_table.py | 54 -------------------- 1 file changed, 54 deletions(-) delete mode 100644 tests/trait_mapping/test_create_efo_table.py diff --git a/tests/trait_mapping/test_create_efo_table.py b/tests/trait_mapping/test_create_efo_table.py deleted file mode 100644 index 9ea1e2c7..00000000 --- a/tests/trait_mapping/test_create_efo_table.py +++ /dev/null @@ -1,54 +0,0 @@ -import os -import sys -import tempfile - -sys.path.append('../../../') -from bin.trait_mapping.create_efo_table import * - - -class TestCreateEFOTableComponents: - - def setup_method(self): - self.input_file = tempfile.NamedTemporaryFile(delete=False) - self.output_file = tempfile.NamedTemporaryFile(delete=False) - with open(self.input_file.name, 'w') as infile: - infile.write('http://purl.obolibrary.org/obo/MONDO_0009796\n' - 'http://www.orpha.net/ORDO/Orphanet_414\n') - - def teardown_method(self): - os.remove(self.input_file.name) - os.remove(self.output_file.name) - - def test_get_ols_details(self): - """Check that the output of the script is adequate in terms of format; also check two example traits.""" - create_efo_table(self.input_file.name, self.output_file.name) - with open(self.output_file.name) as outfile: - out_lines = outfile.read().splitlines() - assert len(out_lines) == 2, 'Should get two output lines for two input lines' - trait_1, trait_2 = [out_line.split('\t') for out_line in out_lines] - for trait in [trait_1, trait_2]: - assert len(trait) == 22, 'Each output line must contain correct number of columns' - - # Trait 1 - assert trait_1[0] == 'ornithine aminotransferase deficiency' # disease - assert 'inherited retinal dystrophy' in trait_1[1] # child of - assert trait_1[7] == 'MeSH:C538071 || MeSH:D015799' # MeSH cross-refs - assert trait_1[8] == 'NCIT:C84744' # NCIT cross-ref - assert trait_1[12] == 'OMIM:258870' # OMIM cross-ref - assert trait_1[13] == 'DOID:1415' # DOID cross-ref - assert trait_1[15] == 'UMLS:C0018425' # ULMS cross-ref - assert trait_1[18] == 'Orphanet:414' # Orphanet cross-ref - assert trait_1[21] == 'MONDO:0009796' # MONDO ref - - # Trait 2 - assert trait_2[0] == 'Gyrate atrophy of choroid and retina' # disease - assert trait_2[1] == 'disorder || Disease' # child of - assert 'is a very rare, inherited retinal dystrophy' in trait_2[2] # description - assert 'Ornithine aminotransferase deficiency' in trait_2[3] # synonyms - assert trait_2[7] == 'MeSH:C537132 || MeSH:C538071 || MeSH:D015799' # MeSH cross-ref - assert trait_2[8] == 'NCIT:C84744' # NCIT cross-ref - assert trait_2[12] == 'OMIM:258870' # OMIM cross-ref - assert trait_2[13] == 'DOID:1415' # DOID cross-ref - assert trait_2[15] == 'UMLS:C0018425 || UMLS:C0599035' # ULMS cross-refs - assert trait_2[18] == 'Orphanet:414' # Orphanet cross-ref - assert trait_2[21] == 'MONDO:0009796' # MONDO ref From 837e2f5a72e05893d5d8abb4cf0eb01a3fa358d6 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 15 May 2024 14:04:41 +0100 Subject: [PATCH 4/5] Update docs/manual-curation/step2-manual-curation.md Co-authored-by: Timothee Cezard --- docs/manual-curation/step2-manual-curation.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/manual-curation/step2-manual-curation.md b/docs/manual-curation/step2-manual-curation.md index f4502338..4e4800bd 100644 --- a/docs/manual-curation/step2-manual-curation.md +++ b/docs/manual-curation/step2-manual-curation.md @@ -93,7 +93,7 @@ Once a term has been marked as IMPORT or NEW, it will automatically show up in t Terms for import do not require any additional manual intervention, but new terms require some additional information, in particular: * **Parent term** - Suggested parent term within EFO. This is required but does not need to be exact as it will be reviewed by EFO maintainers - a rough idea of the term hierarchy is acceptable. * **Child terms** - Suggested children within EFO (if any), should be added if possible. -* **Description, synonyms, PubMed IDs** - Should be added if possible, for example taken from OMIM or MedGen, but can be skipped if needed. +* **Description, synonyms, PubMed IDs** - Should be added if possible, for example taken from OMIM or MedGen, but can be skipped if the information cannot be found. * **MedGen, OMIM** - Links to the specified resource, useful references if any of the above cannot be found. These are often present in the "Suggested exact mapping" column. Any additional comments can be left in the final column, they will be passed on to EFO. From 7a73eaf6a5a71dc01ae1d64dcce17cf7b4c96bf0 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 15 May 2024 14:42:30 +0100 Subject: [PATCH 5/5] fix VEP tests --- .../test_structural_pipeline.py | 4 +- .../expected/consequences_structural.tsv | 14 +- .../resources/expected/evidence_strings.json | 774 +++++++++--------- 3 files changed, 396 insertions(+), 396 deletions(-) diff --git a/tests/consequence_prediction/structural_variants/test_structural_pipeline.py b/tests/consequence_prediction/structural_variants/test_structural_pipeline.py index 42edaea1..d4332628 100644 --- a/tests/consequence_prediction/structural_variants/test_structural_pipeline.py +++ b/tests/consequence_prediction/structural_variants/test_structural_pipeline.py @@ -26,10 +26,10 @@ def run_pipeline(resource_name, include_transcripts=False): def test_successful_run(): assert sorted(run_pipeline('precise_genomic.xml.gz')) == sorted([ - ['NC_000016.10:g.72059151_72063259del', 'ENSG00000140830', 'TXNL4B', 'feature_truncation'], + ['NC_000016.10:g.72059151_72063259del', 'ENSG00000140830', 'TXNL4B', 'intron_variant'], ['NC_000016.10:g.72059151_72063259del', 'ENSG00000257017', 'HP', 'stop_lost'], ['NC_000016.10:g.72059151_72063259del', 'ENSG00000261701', 'HPR', 'feature_truncation'], - ['NC_000001.11:g.25271785_25329047del', 'ENSG00000117616', 'RSRP1', 'feature_truncation'], + ['NC_000001.11:g.25271785_25329047del', 'ENSG00000117616', 'RSRP1', 'intron_variant'], ['NC_000001.11:g.25271785_25329047del', 'ENSG00000187010', 'RHD', 'stop_lost'], ['NC_000011.10:g.5226797_5226798insGCC', 'ENSG00000244734', 'HBB', 'feature_elongation'] ]) diff --git a/tests/pipelines/resources/expected/consequences_structural.tsv b/tests/pipelines/resources/expected/consequences_structural.tsv index 43443a35..3e69fd8e 100644 --- a/tests/pipelines/resources/expected/consequences_structural.tsv +++ b/tests/pipelines/resources/expected/consequences_structural.tsv @@ -3,7 +3,7 @@ NC_000013.11:g.94252984_94352299del99316insCTA ENSG00000183098 GPC6 feature_trun NC_000014.9:g.91881408_91904133dup ENSG00000140092 FBLN5 feature_elongation NC_000012.12:g.109581396_109581551del ENSG00000110921 MVK stop_lost NC_000001.11:g.1696548_1732685del ENSG00000008128 CDK11A transcript_ablation -NC_000001.11:g.49462391_49524663del ENSG00000186094 AGBL4 feature_truncation +NC_000001.11:g.49462391_49524663del ENSG00000186094 AGBL4 intron_variant NC_000003.12:g.89335416_89368021del ENSG00000044524 EPHA3 feature_truncation NC_000007.14:g.152176768_152580446dup ENSG00000055609 KMT2C transcript_amplification NC_000017.11:g.3602749_3678945del ENSG00000040531 CTNS transcript_ablation @@ -16,7 +16,7 @@ NC_000017.11:g.46092442_46502770dup ENSG00000120071 KANSL1 transcript_amplificat NC_000017.11:g.46092442_46502770dup ENSG00000176681 LRRC37A transcript_amplification NC_000017.11:g.46092442_46502770dup ENSG00000185829 ARL17A 3_prime_UTR_variant NC_000017.11:g.46092442_46502770dup ENSG00000228696 ARL17B transcript_amplification -NC_000017.11:g.79369452_79395919dup ENSG00000167281 RBFOX3 feature_elongation +NC_000017.11:g.79369452_79395919dup ENSG00000167281 RBFOX3 intron_variant NC_000014.9:g.95696766_96390792dup ENSG00000066739 ATG2B transcript_amplification NC_000014.9:g.95696766_96390792dup ENSG00000100721 TCL1A transcript_amplification NC_000014.9:g.95696766_96390792dup ENSG00000100739 BDKRB1 transcript_amplification @@ -65,7 +65,7 @@ NC_000004.12:g.68626601_68646936del ENSG00000196620 UGT2B15 feature_truncation NC_000003.12:g.113857357_113901499del ENSG00000178075 GRAMD1C feature_truncation NC_000014.9:g.78581479_79053758del ENSG00000021645 NRXN3 transcript_ablation NC_000017.11:g.43081201_43091610del ENSG00000012048 BRCA1 feature_truncation -NC_000002.12:g.47439264_47450433del ENSG00000095002 MSH2 feature_truncation +NC_000002.12:g.47439264_47450433del ENSG00000095002 MSH2 stop_lost NC_000016.10:g.16151250_16167657del ENSG00000091262 ABCC6 feature_truncation NC_000006.12:g.5609990_5726136del ENSG00000145982 FARS2 feature_truncation NC_000001.11:g.216263262_216311879del ENSG00000042781 USH2A feature_truncation @@ -80,14 +80,14 @@ NC_000010.11:g.133438823_133565257del ENSG00000171772 SYCE1 stop_lost NC_000010.11:g.133438823_133565257del ENSG00000214279 SCART1 transcript_ablation NC_000011.10:g.5433500_5475233dup ENSG00000167359 OR51I1 transcript_amplification NC_000011.10:g.5433500_5475233dup ENSG00000187918 OR51I2 transcript_amplification -NC_000011.10:g.5433500_5475233dup ENSG00000196565 HBG2 feature_elongation -NC_000011.10:g.5433500_5475233dup ENSG00000213931 HBE1 feature_elongation -NC_000021.9:g.21045800_21077901del ENSG00000154654 NCAM2 feature_truncation +NC_000011.10:g.5433500_5475233dup ENSG00000196565 HBG2 intron_variant +NC_000011.10:g.5433500_5475233dup ENSG00000213931 HBE1 intron_variant +NC_000021.9:g.21045800_21077901del ENSG00000154654 NCAM2 intron_variant NC_000023.11:g.41506506_41542250del ENSG00000147044 CASK transcript_ablation NC_000008.11:g.19411890_19467180del ENSG00000147408 CSGALNACT1 feature_truncation NC_000007.14:g.1687729_1779914del ENSG00000225968 ELFN1 stop_lost NC_000014.9:g.87925163_87956828del ENSG00000054983 GALC stop_lost -NC_000002.12:g.196873396_196873397insTTCT ENSG00000197121 PGAP1 feature_elongation +NC_000002.12:g.196873396_196873397insTTCT ENSG00000197121 PGAP1 intron_variant NC_000015.10:g.51681311_51791472dup ENSG00000104112 SCG3 transcript_amplification NC_000015.10:g.51681311_51791472dup ENSG00000128872 TMOD2 coding_sequence_variant NC_000015.10:g.51681311_51791472dup ENSG00000140280 LYSMD2 transcript_amplification diff --git a/tests/pipelines/resources/expected/evidence_strings.json b/tests/pipelines/resources/expected/evidence_strings.json index 8c14aacf..77569441 100644 --- a/tests/pipelines/resources/expected/evidence_strings.json +++ b/tests/pipelines/resources/expected/evidence_strings.json @@ -1,128 +1,6 @@ -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["3170546"], "studyId": "RCV000000176", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["18176953"], "studyId": "RCV000000912", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000120942", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_11285822_C_G", "variantRsId": "rs118203953", "cohortPhenotypes": ["Corneal dystrophy crystalline of Schnyder", "Crystalline corneal dystrophy", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy"], "diseaseFromSource": "Schnyder crystalline corneal dystrophy", "diseaseFromSourceId": "C0271287", "diseaseFromSourceMappedId": "MONDO_0007374", "variantHgvsId": "NC_000001.11:g.11285822C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "MONDO_0009662", "variantHgvsId": "NC_000007.14:g.65964382C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "Orphanet_584", "variantHgvsId": "NC_000007.14:g.65964382C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11781684"], "studyId": "RCV000014778", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000198807", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "14_36663232_A_T", "variantRsId": "rs104894467", "cohortPhenotypes": ["HYPODONTIA/OLIGODONTIA 3", "Tooth agenesis, selective, 3"], "diseaseFromSource": "Tooth agenesis, selective, 3", "diseaseFromSourceId": "C1970291", "diseaseFromSourceMappedId": "EFO_0005410", "variantHgvsId": "NC_000014.9:g.36663232A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["1429602"], "studyId": "RCV000018903", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139219", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_47977607_C_T", "variantRsId": "rs121912868", "cohortPhenotypes": ["Hypochondrogenesis"], "diseaseFromSource": "Hypochondrogenesis", "diseaseFromSourceId": "C0542428", "diseaseFromSourceMappedId": "MONDO_0019669", "variantHgvsId": "NC_000012.12:g.47977607C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000020640", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000140092", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Cutis laxa, autosomal dominant 1"], "diseaseFromSource": "Cutis laxa, autosomal dominant 1", "diseaseFromSourceId": "C3276539", "diseaseFromSourceMappedId": "MONDO_0019571", "variantHgvsId": "NC_000014.9:g.91881408_91904133dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22405089"], "studyId": "RCV000024211", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "6_157198835_T_A", "variantRsId": "rs748363079", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.157198835T>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000049563", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3254202_G_T", "variantRsId": "rs104895132", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254202G>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99817708del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "MONDO_0010986", "variantHgvsId": "NC_000002.12:g.26480990del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000002.12:g.26480990del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000083836", "releaseDate": "2014-02-20", "targetFromSourceId": "ENSG00000110921", "variantFunctionalConsequenceId": "SO_0001578", "variantRsId": "rs104895310", "cohortPhenotypes": ["Hyperimmunoglobulin D with periodic fever", "Hyperimmunoglobulinemia D", "Hyperimmunoglobulinemia D and periodic fever syndrome", "Hyperimmunoglobulinemia D with periodic fever", "Periodic fever Dutch type"], "diseaseFromSource": "Hyperimmunoglobulin D with periodic fever", "diseaseFromSourceId": "C0398691", "diseaseFromSourceMappedId": "MONDO_0009849", "variantHgvsId": "NC_000012.12:g.109581396_109581551del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000087449", "releaseDate": "2014-03-13", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188999367_G_A", "variantRsId": "rs587779512", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188999367G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161150", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000008128", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Normal pregnancy"], "diseaseFromSource": "Normal pregnancy", "diseaseFromSourceId": "C0232989", "diseaseFromSourceMappedId": "EFO_0002950", "variantHgvsId": "NC_000001.11:g.1696548_1732685del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161163", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000186094", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000001.11:g.49462391_49524663del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161300", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000044524", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000003.12:g.89335416_89368021del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161508", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000007.14:g.152176768_152580446dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161829", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000167281", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000017.11:g.79369452_79395919dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167627", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[102]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167627", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[102]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167635", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[123]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167635", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[123]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167648", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[168]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167648", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[168]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167671", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[265]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167671", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[265]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167673", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[281]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167673", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[281]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167677", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[318]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167677", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[318]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167690", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[373]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167690", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[373]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167699", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[421]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167699", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[421]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167706", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[455]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167706", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[455]"} -{"alleleOrigins": ["germline", "inherited", "maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000167707", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[46]"} -{"alleleOrigins": ["germline", "inherited", "maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000167707", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[46]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167714", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[505]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167714", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[505]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167719", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[536]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167719", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[536]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167756", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[83]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167756", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[83]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24255041", "25168903", "25593321", "25722209", "29526280"], "studyId": "RCV000186552", "releaseDate": "2015-07-27", "targetFromSourceId": "ENSG00000196628", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Corneal dystrophy, Fuchs endothelial, 3", "FCD2 LOCUS"], "diseaseFromSource": "Corneal dystrophy, Fuchs endothelial, 3", "diseaseFromSourceId": "C2750451", "diseaseFromSourceMappedId": "Orphanet_98974", "variantHgvsId": "NG_011716.2:g.54765TGC[(51_?)]"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000201338", "releaseDate": "2015-10-30", "targetFromSourceId": "ENSG00000181143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_8950404_G_A", "variantRsId": "rs78804712", "cohortPhenotypes": ["Abnormality of neuronal migration"], "diseaseFromSource": "Abnormality of neuronal migration", "diseaseFromSourceId": "C1837249", "diseaseFromSourceMappedId": "HP_0002269", "variantHgvsId": "NC_000019.10:g.8950404G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000202520", "releaseDate": "2015-12-21", "targetFromSourceId": "ENSG00000143147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_168104855_A_T", "variantRsId": "rs200635937", "cohortPhenotypes": ["Pituitary stalk interruption syndrome"], "diseaseFromSource": "Pituitary stalk interruption syndrome", "diseaseFromSourceId": "C4053775", "diseaseFromSourceMappedId": "MONDO_0019828", "variantHgvsId": "NC_000001.11:g.168104855A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000152683", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203488", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32113664_32125322del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017781", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017782", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000224048", "releaseDate": "2016-06-09", "targetFromSourceId": "ENSG00000105607", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_12897345_G_A", "variantRsId": "rs878853156", "cohortPhenotypes": ["GA I", "Glutaric acidemia type I", "Glutaric aciduria, type 1", "Glutaricacidemia Type 1", "Glutaricaciduria, type I", "Glutaryl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Glutaric aciduria, type 1", "diseaseFromSourceId": "C0268595", "diseaseFromSourceMappedId": "MONDO_0009281", "variantHgvsId": "NC_000019.10:g.12897345G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225267", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000196620", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000004.12:g.68626601_68646936del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225340", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000178075", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000003.12:g.113857357_113901499del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225526", "releaseDate": "2016-06-24", "targetFromSourceId": "ENSG00000021645", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism spectrum disorder", "Autism spectrum disorders", "Autism susceptibility"], "diseaseFromSource": "Autism spectrum disorder", "diseaseFromSourceId": "C1510586", "diseaseFromSourceMappedId": "EFO_0003756", "variantHgvsId": "NC_000014.9:g.78581479_79053758del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000230056", "releaseDate": "2016-07-03", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31225257_T_C", "variantRsId": "rs878853870", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31225257T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26138117"], "studyId": "RCV000235009", "releaseDate": "2016-07-16", "targetFromSourceId": "ENSG00000103657", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_63734745_C_T", "variantRsId": "rs879253786", "cohortPhenotypes": ["Macrocephaly, dysmorphic facies, and psychomotor retardation"], "diseaseFromSource": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "diseaseFromSourceId": "C4310766", "diseaseFromSourceMappedId": "MONDO_0014863", "variantHgvsId": "NC_000015.10:g.63734745C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000248743", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178779324_C_T", "variantRsId": "rs748755381", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.178779324C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000250222", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188994044_C_T", "variantRsId": "rs757192342", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.188994044C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000259393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105641", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "19_17872267_C_T", "variantRsId": "rs886054281", "cohortPhenotypes": ["Familial thyroid dyshormonogenesis 1", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Thyroid dyshormonogenesis 1"], "diseaseFromSource": "Familial thyroid dyshormonogenesis 1", "diseaseFromSourceId": "C1848805", "diseaseFromSourceMappedId": "Orphanet_95716", "variantHgvsId": "NC_000019.10:g.17872267C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260368", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000052850", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_44275556_G_A", "variantRsId": "rs143620051", "cohortPhenotypes": ["Parietal foramina 2"], "diseaseFromSource": "Parietal foramina 2", "diseaseFromSourceId": "C1865044", "diseaseFromSourceMappedId": "MONDO_0018953", "variantHgvsId": "NC_000011.10:g.44275556G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000269816", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_40807393_T_C", "variantRsId": "rs374352017", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40807393T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "MONDO_0013111", "variantHgvsId": "NC_000022.11:g.46355522C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "Orphanet_217371", "variantHgvsId": "NC_000022.11:g.46355522C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273957", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "Orphanet_333", "variantHgvsId": "NC_000008.11:g.18056848A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "MONDO_0009218", "variantHgvsId": "NC_000008.11:g.18056848A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276090", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000214960", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_16091274_A_G", "variantRsId": "rs886062164", "cohortPhenotypes": ["Congenital Muscular Dystrophy, alpha-dystroglycan related"], "diseaseFromSource": "Congenital Muscular Dystrophy, alpha-dystroglycan related", "diseaseFromSourceId": "CN239202", "variantHgvsId": "NC_000007.14:g.16091274A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000280743", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000137869", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_51209789_G_A", "variantRsId": "rs886051274", "cohortPhenotypes": ["Aromatase deficiency", "Increased aromatase activity", "Pseudohermaphroditism, female, due to placental aromatase deficiency"], "diseaseFromSource": "Aromatase deficiency", "diseaseFromSourceId": "C1960539", "diseaseFromSourceMappedId": "MONDO_0013301", "variantHgvsId": "NC_000015.10:g.51209789G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000296044", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000145476", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_186212608_C_T", "variantRsId": "rs886059294", "cohortPhenotypes": ["Corneal Dystrophy, Recessive"], "diseaseFromSource": "Corneal Dystrophy, Recessive", "diseaseFromSourceId": "CN239343", "variantHgvsId": "NC_000004.12:g.186212608C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000329537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000081923", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57706547_G_T", "variantRsId": "rs145214384", "cohortPhenotypes": ["Byler disease", "Byler's disease", "Progressive familial intrahepatic cholestasis type 1"], "diseaseFromSource": "Progressive familial intrahepatic cholestasis type 1", "diseaseFromSourceId": "C4551898", "diseaseFromSourceMappedId": "MONDO_0008892", "variantHgvsId": "NC_000018.10:g.57706547G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166415", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_53515041_G_GTATATATATGTGTGTATATATATACACACATATATATGTGTA", "variantRsId": "rs1555402394", "cohortPhenotypes": ["Amelogenesis Imperfecta, Recessive"], "diseaseFromSource": "Amelogenesis Imperfecta, Recessive", "diseaseFromSourceId": "CN239209", "variantHgvsId": "NC_000015.10:g.53515042_53515080TA[4]TG[3]TA[5]CA[3]TA[3]TG[2]TA[5]TG[3]TA[5]CA[3]TA[3]TGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339505", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_31547162_G_T", "variantRsId": "rs552933757", "cohortPhenotypes": ["Dilated Cardiomyopathy, Dominant"], "diseaseFromSource": "Dilated Cardiomyopathy, Dominant", "diseaseFromSourceId": "CN239310", "diseaseFromSourceMappedId": "EFO_0009142", "variantHgvsId": "NC_000018.10:g.31547162G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000343150", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "13_40809884_G_A", "variantRsId": "rs886050241", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40809884G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000345155", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000135517", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_56454516_C_T", "variantRsId": "rs139963297", "cohortPhenotypes": ["CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES", "Cataract 15 multiple types"], "diseaseFromSource": "Cataract 15 multiple types", "diseaseFromSourceId": "C3809001", "variantHgvsId": "NC_000012.12:g.56454516C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "CN168056", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000370803", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000138738", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "4_120785105_A_G", "variantRsId": "rs375296023", "cohortPhenotypes": ["Brittle cornea syndrome 2"], "diseaseFromSource": "Brittle cornea syndrome 2", "diseaseFromSourceId": "C3280011", "diseaseFromSourceMappedId": "MONDO_0009242", "variantHgvsId": "NC_000004.12:g.120785105A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000392856", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000411534", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468502", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_31226668_C_T", "variantRsId": "rs1060503901", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31226668C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477503", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000182389", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_151839269_C_T", "variantRsId": "rs1805029", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000002.12:g.151839269C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "releaseDate": "2017-06-03", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "releaseDate": "2017-06-03", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000499352", "releaseDate": "2017-10-27", "targetFromSourceId": "ENSG00000091262", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gronblad Strandberg syndrome", "Pseudoxanthoma elasticum"], "diseaseFromSource": "Pseudoxanthoma elasticum", "diseaseFromSourceId": "C0033847", "diseaseFromSourceMappedId": "Orphanet_758", "variantHgvsId": "NC_000016.10:g.16151250_16167657del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["X-linked inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000505480", "releaseDate": "2017-09-19", "targetFromSourceId": "ENSG00000102174", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "X_22245412_A_T", "variantRsId": "rs1556201217", "cohortPhenotypes": ["Familial X-linked hypophosphatemic vitamin D refractory rickets", "HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS", "Hypophosphatemia, vitamin D-resistant rickets", "Hypophosphatemic Rickets, X-Linked Dominant", "Vitamin D-resistant rickets, X-linked"], "diseaseFromSource": "Familial X-linked hypophosphatemic vitamin D refractory rickets", "diseaseFromSourceId": "C0733682", "diseaseFromSourceMappedId": "MONDO_0000044", "variantHgvsId": "NC_000023.11:g.22245412A>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967491G>A"} @@ -164,7 +42,7 @@ {"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000130649", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} {"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000171772", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} {"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000214279", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754472", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000154654", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000021.9:g.21045800_21077901del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754472", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000154654", "variantFunctionalConsequenceId": "SO_0001627", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000021.9:g.21045800_21077901del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000770196", "releaseDate": "2019-05-06", "targetFromSourceId": "ENSG00000172399", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_119136554_A_G", "variantRsId": "rs76757102", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000004.12:g.119136554A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000774450", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31545746_A_C", "variantRsId": "rs369868954", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31545746A>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000779393", "releaseDate": "2019-05-27", "targetFromSourceId": "ENSG00000206561", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_15458185_C_T", "variantRsId": "rs757060689", "cohortPhenotypes": ["Congenital myasthenic syndrome 5", "Endplate acetylcholinesterase deficiency"], "diseaseFromSource": "Congenital myasthenic syndrome 5", "diseaseFromSourceId": "C1864233", "diseaseFromSourceMappedId": "Orphanet_98915", "variantHgvsId": "NC_000003.12:g.15458185C>T"} @@ -182,114 +60,161 @@ {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000902966", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000109101", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_28537375_C_T", "variantRsId": "rs368962978", "cohortPhenotypes": ["Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency", "Pignata Guarino syndrome", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"], "diseaseFromSource": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "diseaseFromSourceId": "C1866426", "diseaseFromSourceMappedId": "Orphanet_169095", "variantHgvsId": "NC_000017.11:g.28537375C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000968533", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000198734", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_169549873_T_C", "variantRsId": "rs140627208", "cohortPhenotypes": ["Factor V deficiency", "LABILE FACTOR DEFICIENCY", "OWREN PARAHEMOPHILIA", "PARAHEMOPHILIA"], "diseaseFromSource": "Factor V deficiency", "diseaseFromSourceId": "C0015499", "diseaseFromSourceMappedId": "MONDO_0009210", "variantHgvsId": "NC_000001.11:g.169549873T>C"} {"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000984024", "releaseDate": "2019-12-23", "targetFromSourceId": "ENSG00000145495", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_10356343_A_ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT", "cohortPhenotypes": ["CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3", "Epilepsy, familial adult myoclonic, 3", "FAME3"], "diseaseFromSource": "Epilepsy, familial adult myoclonic, 3", "diseaseFromSourceId": "C3150860", "diseaseFromSourceMappedId": "MONDO_0019448", "variantHgvsId": "NC_000005.10:g.10356347ATTTT[641]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "releaseDate": "2020-02-15", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010883", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000119514", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_98840095_C_T", "variantRsId": "rs1297882734", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.98840095C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95477637C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001020798", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000135446", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57751081_G_C", "variantRsId": "rs587778185", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "MONDO_0014662", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "Orphanet_140477", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001060849", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000277586", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "8_24952904_T_TCACCTC", "variantRsId": "rs777344234", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E", "CMT 2E", "Charcot-Marie-Tooth disease type 2E", "Charcot-Marie-Tooth disease, axonal, Type 2E"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2E", "diseaseFromSourceId": "C1843225", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000008.11:g.24952906_24952911dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001070333", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_113357180_G_T", "variantRsId": "rs2095842493", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000004.12:g.113357180G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001103379", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000109927", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_121118604_G_T", "variantRsId": "rs145913741", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 12", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Deafness, autosomal dominant 12"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832187", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000011.10:g.121118604G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001111544", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133104", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_36304571_C_T", "variantRsId": "rs150163770", "cohortPhenotypes": ["Autosomal recessive spastic paraplegia type 20", "Spastic paraparesis childhood-onset with distal muscle wasting", "Spastic paraplegia 20", "Spastic paraplegia autosomal recessive Troyer type", "Troyer syndrome"], "diseaseFromSource": "Troyer syndrome", "diseaseFromSourceId": "C0393559", "diseaseFromSourceMappedId": "MONDO_0010156", "variantHgvsId": "NC_000013.11:g.36304571C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116144", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_88826736_G_A", "variantRsId": "rs368784505", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88826736G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001123999", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000184640", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_77499030_C_T", "variantRsId": "rs773235757", "cohortPhenotypes": ["Amyotrophic neuralgia", "Amyotrophy, hereditary neuralgic", "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "Brachial plexus neuropathy, hereditary", "Neuritis with brachial predilection"], "diseaseFromSource": "Amyotrophic neuralgia", "diseaseFromSourceId": "C1834304", "diseaseFromSourceMappedId": "MONDO_0017362", "variantHgvsId": "NC_000017.11:g.77499030C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001126371", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000166685", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_73201307_A_G", "variantRsId": "rs779677895", "cohortPhenotypes": ["CDG 2G", "CDG IIg", "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", "COG1 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "Congenital disorder of glycosylation type 2G"], "diseaseFromSource": "COG1 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931011", "diseaseFromSourceMappedId": "MONDO_0012637", "variantHgvsId": "NC_000017.11:g.73201307A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127542", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183287", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_59432669_C_G", "variantRsId": "rs1909983760", "cohortPhenotypes": ["Hennekam lymphangiectasia-lymphedema syndrome 1", "LYMPHATIC DYSPLASIA, GENERALIZED"], "diseaseFromSource": "Hennekam lymphangiectasia-lymphedema syndrome 1", "diseaseFromSourceId": "C4012050", "diseaseFromSourceMappedId": "MONDO_0016256", "variantHgvsId": "NC_000018.10:g.59432669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall Syndrome"], "diseaseFromSource": "Pineal hyperplasia AND diabetes mellitus syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3", "PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott Rallison syndrome", "Wolcott-Rallison dysplasia"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148356", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163666", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "3_57199924_C_T", "variantRsId": "rs368171529", "cohortPhenotypes": ["De morsier syndrome", "Hypopituitarism and septooptic 'dysplasia'", "Septo-optic dysplasia", "Septo-optic dysplasia sequence", "Septo-optic dysplasia with growth hormone deficiency"], "diseaseFromSource": "Septo-optic dysplasia sequence", "diseaseFromSourceId": "C0338503", "diseaseFromSourceMappedId": "Orphanet_3157", "variantHgvsId": "NC_000003.12:g.57199924C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001150592", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000121207", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_154750256_C_T", "variantRsId": "rs745651761", "cohortPhenotypes": ["Leber congenital amaurosis 14"], "diseaseFromSource": "Leber congenital amaurosis 14", "diseaseFromSourceId": "C2750063", "diseaseFromSourceMappedId": "MONDO_0018998", "variantHgvsId": "NC_000004.12:g.154750256C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153859", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000135604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_144189005_T_C", "variantRsId": "rs895149662", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 4"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 4", "diseaseFromSourceId": "C1863728", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000006.12:g.144189005T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "Orphanet_861", "variantHgvsId": "NC_000006.12:g.43517306G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "MONDO_0002457", "variantHgvsId": "NC_000006.12:g.43517306G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "releaseDate": "2020-06-14", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001179648", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_52403846_A_G", "variantRsId": "rs1553644986", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "releaseDate": "2020-07-04", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "releaseDate": "2020-08-21", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "releaseDate": "2020-09-19", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266126", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000275410", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_37739433_CACTT_C", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000017.11:g.37739436_37739439del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71551711C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71551711C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30822429", "32098969"], "studyId": "RCV001290959", "releaseDate": "2021-02-13", "targetFromSourceId": "ENSG00000130475", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "19_17783101_T_TG", "variantRsId": "rs2093571190", "cohortPhenotypes": ["Immunodeficiency 76"], "diseaseFromSource": "Immunodeficiency 76", "diseaseFromSourceId": "C5543004", "variantHgvsId": "NC_000019.10:g.17783102dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000111860", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000237017", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "releaseDate": "2021-07-24", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001542382", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000054983", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Galactocerebrosidase deficiency", "Galactosylceramide beta-galactosidase deficiency", "Globoid cell leukoencephalopathy", "Krabbe leukodystrophy", "Leukodystrophy, Globoid Cell"], "diseaseFromSource": "Galactosylceramide beta-galactosidase deficiency", "diseaseFromSourceId": "C0023521", "diseaseFromSourceMappedId": "MONDO_0009499", "variantHgvsId": "NC_000014.9:g.87925163_87956828del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "releaseDate": "2021-08-27", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["Glanzmann thrombasthenia 1"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001832466", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "GNE-Related Myopathies", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001978896", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241504247_T_TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["Fumarase deficiency", "Fumarate Hydratase Deficiency", "Fumaric aciduria"], "diseaseFromSource": "Fumarase deficiency", "diseaseFromSourceId": "C0342770", "diseaseFromSourceMappedId": "MONDO_0011730", "variantHgvsId": "NC_000001.11:g.241504248_241504262AAAGA[2]A[4]TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "releaseDate": "2017-05-14", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000647147", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001520269", "releaseDate": "2021-06-15", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "2_73601183_T_C", "variantRsId": "rs1320374", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73601183T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000499412", "releaseDate": "2017-08-28", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112827194_C_T", "variantRsId": "rs137854580", "cohortPhenotypes": ["Classic familial adenomatous polyposis", "Familial adenomatous polyposis", "Familial adenomatous polyposis of the colon", "Familial intestinal polyposis", "Familial multiple polyposis", "Familial multiple polyposis syndrome", "Familial polyposis", "Familial polyposis of the colon", "Hereditary polyposis coli"], "diseaseFromSource": "Familial multiple polyposis syndrome", "diseaseFromSourceId": "C0032580", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827194C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "releaseDate": "2018-07-21", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000666985", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001290125", "releaseDate": "2021-01-30", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23561485_T_A", "variantRsId": "rs2059038310", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "cohortPhenotypes": ["CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "OPITZ BBB SYNDROME, TYPE II", "OPITZ BBBG SYNDROME, TYPE II", "OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II", "OPITZ-G SYNDROME, TYPE II", "Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1293861C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1293861C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1268591G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1268591G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "Orphanet_183713", "variantHgvsId": "NC_000003.12:g.38140571T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "MONDO_0012839", "variantHgvsId": "NC_000003.12:g.38140571T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52402628G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52402628G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000198920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_6628328_A_G", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000282936", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6628328_A_G", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002057147", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000115904", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_39120324_C_A", "variantRsId": "rs368569135", "cohortPhenotypes": ["Noonan spectrum disorder", "RASopathy", "rasopathies"], "diseaseFromSource": "RASopathy", "diseaseFromSourceId": "C5555857", "diseaseFromSourceMappedId": "EFO_1001502", "variantHgvsId": "NC_000002.12:g.39120324C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198712", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198786", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198840", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198886", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198899", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198938", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000212907", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000228253", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198712", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198786", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198840", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198886", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198899", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198938", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000212907", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000228253", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV002248369", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000144191", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_98396402_CAG_C", "cohortPhenotypes": ["Achromatopsia 2", "Colorblindness, total", "Rod monochromacy 2", "Rod monochromatism 2"], "diseaseFromSource": "Achromatopsia 2", "diseaseFromSourceId": "C1857618", "diseaseFromSourceMappedId": "MONDO_0018852", "variantHgvsId": "NC_000002.12:g.98396403AG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, ankyrin-B-related"], "diseaseFromSource": "Cardiac arrhythmia, ankyrin-B-related", "diseaseFromSourceId": "C1970119", "variantHgvsId": "NC_000004.12:g.113358266A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002253853", "releaseDate": "2022-06-10", "targetFromSourceId": "ENSG00000154122", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "5_14751257_G_C", "cohortPhenotypes": ["Craniometaphyseal dysplasia Jackson type", "Craniometaphyseal dysplasia, autosomal dominant"], "diseaseFromSource": "Craniometaphyseal dysplasia, autosomal dominant", "diseaseFromSourceId": "C1852502", "diseaseFromSourceMappedId": "MONDO_0015465", "variantHgvsId": "NC_000005.10:g.14751257G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000043259", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "MONDO_0018614", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132529", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47478436_A_G", "variantRsId": "rs587782891", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47478436A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25302331C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25302331C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61847140G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61847140G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000571846", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_95124382_C_T", "variantRsId": "rs1347290726", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "Orphanet_2637", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000772538", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000775105", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001013688", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780280_T_C", "variantRsId": "rs1603333030", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049625", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237445471_G_A", "variantRsId": "rs371121679", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237445471G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001079914", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_99467624_C_G", "variantRsId": "rs149478021", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99467624C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001301713", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237614188_A_C", "variantRsId": "rs760479688", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237614188A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001358788", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000001.11:g.43920904C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000001.11:g.43920904C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807043", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156829362_A_G", "variantRsId": "rs17318151", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.156829362A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001810029", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63472400_C_T", "variantRsId": "rs2082239153", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63472400C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61743089C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61743089C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000009.12:g.128626514C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000009.12:g.128626514C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001958601", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "14_95106197_C_CGACCCGTT", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95106199_95106200insCCCGTTGA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002042360", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000083093", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23624082_G_T", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000016.10:g.23624082G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083531", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000114054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_136256549_T_C", "cohortPhenotypes": ["Glycinemia, ketotic", "Hyperglycinemia with ketoacidosis and leukopenia", "Ketotic hyperglycinemia", "Propionic acidemia"], "diseaseFromSource": "Propionic acidemia", "diseaseFromSourceId": "C0268579", "diseaseFromSourceMappedId": "MONDO_0011628", "variantHgvsId": "NC_000003.12:g.136256549T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000003.12:g.50366179G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000003.12:g.50366179G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002182174", "releaseDate": "2022-06-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "1_237806124_T_C", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237806124T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244130", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000164692", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "7_94418537_CA_C", "cohortPhenotypes": ["EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "Ehlers-danlos syndrome, arthrochalasia type, 2"], "diseaseFromSource": "Ehlers-danlos syndrome, arthrochalasia type, 2", "diseaseFromSourceId": "CN293783", "diseaseFromSourceMappedId": "Orphanet_1899", "variantHgvsId": "NC_000007.14:g.94418538del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244189", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001770008", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000156531", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_134377702_G_T", "cohortPhenotypes": ["Borjeson Syndrome", "Borjeson-Forssman-Lehmann syndrome", "MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS", "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE", "Mental deficiency, epilepsy and endocrine disorders"], "diseaseFromSource": "Borjeson-Forssman-Lehmann syndrome", "diseaseFromSourceId": "C0265339", "diseaseFromSourceMappedId": "MONDO_0010537", "variantHgvsId": "NC_000023.11:g.134377702G>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001783910", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000100106", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_37724732_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 28", "Deafness, autosomal recessive 28"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 28", "diseaseFromSourceId": "C1853276", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000022.11:g.37724732C>T"} {"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "MONDO_0019145", "variantHgvsId": "NC_000002.12:g.127428543G>A"} @@ -434,6 +359,236 @@ {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "MONDO_0015998", "variantHgvsId": "NC_000001.11:g.150554470G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "Orphanet_1885", "variantHgvsId": "NC_000001.11:g.150554470G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002219838", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000111262", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_4911867_G_A", "cohortPhenotypes": ["ATAXIA, EPISODIC, WITH MYOKYMIA", "Episodic ataxia type 1", "MYOKYMIA WITH PERIODIC ATAXIA", "PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY"], "diseaseFromSource": "Episodic ataxia type 1", "diseaseFromSourceId": "C1719788", "diseaseFromSourceMappedId": "MONDO_0008047", "variantHgvsId": "NC_000012.12:g.4911867G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "releaseDate": "2020-02-15", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010883", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000119514", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_98840095_C_T", "variantRsId": "rs1297882734", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.98840095C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95477637C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001020798", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000135446", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57751081_G_C", "variantRsId": "rs587778185", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "MONDO_0014662", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "Orphanet_140477", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001060849", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000277586", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "8_24952904_T_TCACCTC", "variantRsId": "rs777344234", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E", "CMT 2E", "Charcot-Marie-Tooth disease type 2E", "Charcot-Marie-Tooth disease, axonal, Type 2E"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2E", "diseaseFromSourceId": "C1843225", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000008.11:g.24952906_24952911dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001070333", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_113357180_G_T", "variantRsId": "rs2095842493", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000004.12:g.113357180G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001103379", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000109927", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_121118604_G_T", "variantRsId": "rs145913741", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 12", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Deafness, autosomal dominant 12"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832187", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000011.10:g.121118604G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001111544", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133104", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_36304571_C_T", "variantRsId": "rs150163770", "cohortPhenotypes": ["Autosomal recessive spastic paraplegia type 20", "Spastic paraparesis childhood-onset with distal muscle wasting", "Spastic paraplegia 20", "Spastic paraplegia autosomal recessive Troyer type", "Troyer syndrome"], "diseaseFromSource": "Troyer syndrome", "diseaseFromSourceId": "C0393559", "diseaseFromSourceMappedId": "MONDO_0010156", "variantHgvsId": "NC_000013.11:g.36304571C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116144", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_88826736_G_A", "variantRsId": "rs368784505", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88826736G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001123999", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000184640", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_77499030_C_T", "variantRsId": "rs773235757", "cohortPhenotypes": ["Amyotrophic neuralgia", "Amyotrophy, hereditary neuralgic", "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "Brachial plexus neuropathy, hereditary", "Neuritis with brachial predilection"], "diseaseFromSource": "Amyotrophic neuralgia", "diseaseFromSourceId": "C1834304", "diseaseFromSourceMappedId": "MONDO_0017362", "variantHgvsId": "NC_000017.11:g.77499030C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001126371", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000166685", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_73201307_A_G", "variantRsId": "rs779677895", "cohortPhenotypes": ["CDG 2G", "CDG IIg", "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", "COG1 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "Congenital disorder of glycosylation type 2G"], "diseaseFromSource": "COG1 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931011", "diseaseFromSourceMappedId": "MONDO_0012637", "variantHgvsId": "NC_000017.11:g.73201307A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127542", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183287", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_59432669_C_G", "variantRsId": "rs1909983760", "cohortPhenotypes": ["Hennekam lymphangiectasia-lymphedema syndrome 1", "LYMPHATIC DYSPLASIA, GENERALIZED"], "diseaseFromSource": "Hennekam lymphangiectasia-lymphedema syndrome 1", "diseaseFromSourceId": "C4012050", "diseaseFromSourceMappedId": "MONDO_0016256", "variantHgvsId": "NC_000018.10:g.59432669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall Syndrome"], "diseaseFromSource": "Pineal hyperplasia AND diabetes mellitus syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3", "PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott Rallison syndrome", "Wolcott-Rallison dysplasia"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148356", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163666", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "3_57199924_C_T", "variantRsId": "rs368171529", "cohortPhenotypes": ["De morsier syndrome", "Hypopituitarism and septooptic 'dysplasia'", "Septo-optic dysplasia", "Septo-optic dysplasia sequence", "Septo-optic dysplasia with growth hormone deficiency"], "diseaseFromSource": "Septo-optic dysplasia sequence", "diseaseFromSourceId": "C0338503", "diseaseFromSourceMappedId": "Orphanet_3157", "variantHgvsId": "NC_000003.12:g.57199924C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001150592", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000121207", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_154750256_C_T", "variantRsId": "rs745651761", "cohortPhenotypes": ["Leber congenital amaurosis 14"], "diseaseFromSource": "Leber congenital amaurosis 14", "diseaseFromSourceId": "C2750063", "diseaseFromSourceMappedId": "MONDO_0018998", "variantHgvsId": "NC_000004.12:g.154750256C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153859", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000135604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_144189005_T_C", "variantRsId": "rs895149662", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 4"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 4", "diseaseFromSourceId": "C1863728", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000006.12:g.144189005T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "Orphanet_861", "variantHgvsId": "NC_000006.12:g.43517306G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "MONDO_0002457", "variantHgvsId": "NC_000006.12:g.43517306G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "releaseDate": "2020-06-14", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001179648", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_52403846_A_G", "variantRsId": "rs1553644986", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "releaseDate": "2020-07-04", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "releaseDate": "2020-08-21", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "releaseDate": "2020-09-19", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266126", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000275410", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_37739433_CACTT_C", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000017.11:g.37739436_37739439del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71551711C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71551711C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30822429", "32098969"], "studyId": "RCV001290959", "releaseDate": "2021-02-13", "targetFromSourceId": "ENSG00000130475", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "19_17783101_T_TG", "variantRsId": "rs2093571190", "cohortPhenotypes": ["Immunodeficiency 76"], "diseaseFromSource": "Immunodeficiency 76", "diseaseFromSourceId": "C5543004", "variantHgvsId": "NC_000019.10:g.17783102dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000111860", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000237017", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "releaseDate": "2021-07-24", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001542382", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000054983", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Galactocerebrosidase deficiency", "Galactosylceramide beta-galactosidase deficiency", "Globoid cell leukoencephalopathy", "Krabbe leukodystrophy", "Leukodystrophy, Globoid Cell"], "diseaseFromSource": "Galactosylceramide beta-galactosidase deficiency", "diseaseFromSourceId": "C0023521", "diseaseFromSourceMappedId": "MONDO_0009499", "variantHgvsId": "NC_000014.9:g.87925163_87956828del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "releaseDate": "2021-08-27", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["Glanzmann thrombasthenia 1"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["3170546"], "studyId": "RCV000000176", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["18176953"], "studyId": "RCV000000912", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000120942", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_11285822_C_G", "variantRsId": "rs118203953", "cohortPhenotypes": ["Corneal dystrophy crystalline of Schnyder", "Crystalline corneal dystrophy", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy"], "diseaseFromSource": "Schnyder crystalline corneal dystrophy", "diseaseFromSourceId": "C0271287", "diseaseFromSourceMappedId": "MONDO_0007374", "variantHgvsId": "NC_000001.11:g.11285822C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "MONDO_0009662", "variantHgvsId": "NC_000007.14:g.65964382C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "Orphanet_584", "variantHgvsId": "NC_000007.14:g.65964382C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11781684"], "studyId": "RCV000014778", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000198807", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "14_36663232_A_T", "variantRsId": "rs104894467", "cohortPhenotypes": ["HYPODONTIA/OLIGODONTIA 3", "Tooth agenesis, selective, 3"], "diseaseFromSource": "Tooth agenesis, selective, 3", "diseaseFromSourceId": "C1970291", "diseaseFromSourceMappedId": "EFO_0005410", "variantHgvsId": "NC_000014.9:g.36663232A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["1429602"], "studyId": "RCV000018903", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139219", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_47977607_C_T", "variantRsId": "rs121912868", "cohortPhenotypes": ["Hypochondrogenesis"], "diseaseFromSource": "Hypochondrogenesis", "diseaseFromSourceId": "C0542428", "diseaseFromSourceMappedId": "MONDO_0019669", "variantHgvsId": "NC_000012.12:g.47977607C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000020640", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000140092", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Cutis laxa, autosomal dominant 1"], "diseaseFromSource": "Cutis laxa, autosomal dominant 1", "diseaseFromSourceId": "C3276539", "diseaseFromSourceMappedId": "MONDO_0019571", "variantHgvsId": "NC_000014.9:g.91881408_91904133dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22405089"], "studyId": "RCV000024211", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "6_157198835_T_A", "variantRsId": "rs748363079", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.157198835T>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000049563", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3254202_G_T", "variantRsId": "rs104895132", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254202G>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99817708del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "MONDO_0010986", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000083836", "releaseDate": "2014-02-20", "targetFromSourceId": "ENSG00000110921", "variantFunctionalConsequenceId": "SO_0001578", "variantRsId": "rs104895310", "cohortPhenotypes": ["Hyperimmunoglobulin D with periodic fever", "Hyperimmunoglobulinemia D", "Hyperimmunoglobulinemia D and periodic fever syndrome", "Hyperimmunoglobulinemia D with periodic fever", "Periodic fever Dutch type"], "diseaseFromSource": "Hyperimmunoglobulin D with periodic fever", "diseaseFromSourceId": "C0398691", "diseaseFromSourceMappedId": "MONDO_0009849", "variantHgvsId": "NC_000012.12:g.109581396_109581551del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000087449", "releaseDate": "2014-03-13", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188999367_G_A", "variantRsId": "rs587779512", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188999367G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161150", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000008128", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Normal pregnancy"], "diseaseFromSource": "Normal pregnancy", "diseaseFromSourceId": "C0232989", "diseaseFromSourceMappedId": "EFO_0002950", "variantHgvsId": "NC_000001.11:g.1696548_1732685del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161163", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000186094", "variantFunctionalConsequenceId": "SO_0001627", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000001.11:g.49462391_49524663del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161300", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000044524", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000003.12:g.89335416_89368021del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161508", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000007.14:g.152176768_152580446dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161829", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000167281", "variantFunctionalConsequenceId": "SO_0001627", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000017.11:g.79369452_79395919dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167627", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[102]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167627", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[102]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167635", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[123]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167635", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[123]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167648", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[168]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167648", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[168]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167671", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[265]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167671", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[265]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167673", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[281]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167673", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[281]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167677", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[318]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167677", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[318]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167690", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[373]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167690", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[373]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167699", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[421]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167699", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[421]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167706", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[455]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167706", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[455]"} +{"alleleOrigins": ["germline", "inherited", "maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000167707", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[46]"} +{"alleleOrigins": ["germline", "inherited", "maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000167707", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[46]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167714", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[505]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167714", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[505]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167719", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[536]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167719", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[536]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167756", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[83]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167756", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207GCA[83]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24255041", "25168903", "25593321", "25722209", "29526280"], "studyId": "RCV000186552", "releaseDate": "2015-07-27", "targetFromSourceId": "ENSG00000196628", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Corneal dystrophy, Fuchs endothelial, 3", "FCD2 LOCUS"], "diseaseFromSource": "Corneal dystrophy, Fuchs endothelial, 3", "diseaseFromSourceId": "C2750451", "diseaseFromSourceMappedId": "Orphanet_98974", "variantHgvsId": "NG_011716.2:g.54765TGC[(51_?)]"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000201338", "releaseDate": "2015-10-30", "targetFromSourceId": "ENSG00000181143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_8950404_G_A", "variantRsId": "rs78804712", "cohortPhenotypes": ["Abnormality of neuronal migration"], "diseaseFromSource": "Abnormality of neuronal migration", "diseaseFromSourceId": "C1837249", "diseaseFromSourceMappedId": "HP_0002269", "variantHgvsId": "NC_000019.10:g.8950404G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000202520", "releaseDate": "2015-12-21", "targetFromSourceId": "ENSG00000143147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_168104855_A_T", "variantRsId": "rs200635937", "cohortPhenotypes": ["Pituitary stalk interruption syndrome"], "diseaseFromSource": "Pituitary stalk interruption syndrome", "diseaseFromSourceId": "C4053775", "diseaseFromSourceMappedId": "MONDO_0019828", "variantHgvsId": "NC_000001.11:g.168104855A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000152683", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203488", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32113664_32125322del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017781", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017782", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000224048", "releaseDate": "2016-06-09", "targetFromSourceId": "ENSG00000105607", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_12897345_G_A", "variantRsId": "rs878853156", "cohortPhenotypes": ["GA I", "Glutaric acidemia type I", "Glutaric aciduria, type 1", "Glutaricacidemia Type 1", "Glutaricaciduria, type I", "Glutaryl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Glutaric aciduria, type 1", "diseaseFromSourceId": "C0268595", "diseaseFromSourceMappedId": "MONDO_0009281", "variantHgvsId": "NC_000019.10:g.12897345G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225267", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000196620", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000004.12:g.68626601_68646936del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225340", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000178075", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000003.12:g.113857357_113901499del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225526", "releaseDate": "2016-06-24", "targetFromSourceId": "ENSG00000021645", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism spectrum disorder", "Autism spectrum disorders", "Autism susceptibility"], "diseaseFromSource": "Autism spectrum disorder", "diseaseFromSourceId": "C1510586", "diseaseFromSourceMappedId": "EFO_0003756", "variantHgvsId": "NC_000014.9:g.78581479_79053758del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000230056", "releaseDate": "2016-07-03", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31225257_T_C", "variantRsId": "rs878853870", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31225257T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26138117"], "studyId": "RCV000235009", "releaseDate": "2016-07-16", "targetFromSourceId": "ENSG00000103657", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_63734745_C_T", "variantRsId": "rs879253786", "cohortPhenotypes": ["Macrocephaly, dysmorphic facies, and psychomotor retardation"], "diseaseFromSource": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "diseaseFromSourceId": "C4310766", "diseaseFromSourceMappedId": "MONDO_0014863", "variantHgvsId": "NC_000015.10:g.63734745C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000248743", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178779324_C_T", "variantRsId": "rs748755381", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.178779324C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000250222", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188994044_C_T", "variantRsId": "rs757192342", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.188994044C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000259393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105641", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "19_17872267_C_T", "variantRsId": "rs886054281", "cohortPhenotypes": ["Familial thyroid dyshormonogenesis 1", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Thyroid dyshormonogenesis 1"], "diseaseFromSource": "Familial thyroid dyshormonogenesis 1", "diseaseFromSourceId": "C1848805", "diseaseFromSourceMappedId": "Orphanet_95716", "variantHgvsId": "NC_000019.10:g.17872267C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260368", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000052850", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_44275556_G_A", "variantRsId": "rs143620051", "cohortPhenotypes": ["Parietal foramina 2"], "diseaseFromSource": "Parietal foramina 2", "diseaseFromSourceId": "C1865044", "diseaseFromSourceMappedId": "MONDO_0018953", "variantHgvsId": "NC_000011.10:g.44275556G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000269816", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_40807393_T_C", "variantRsId": "rs374352017", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40807393T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "MONDO_0013111", "variantHgvsId": "NC_000022.11:g.46355522C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "Orphanet_217371", "variantHgvsId": "NC_000022.11:g.46355522C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273957", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "Orphanet_333", "variantHgvsId": "NC_000008.11:g.18056848A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "MONDO_0009218", "variantHgvsId": "NC_000008.11:g.18056848A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276090", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000214960", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_16091274_A_G", "variantRsId": "rs886062164", "cohortPhenotypes": ["Congenital Muscular Dystrophy, alpha-dystroglycan related"], "diseaseFromSource": "Congenital Muscular Dystrophy, alpha-dystroglycan related", "diseaseFromSourceId": "CN239202", "variantHgvsId": "NC_000007.14:g.16091274A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000280743", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000137869", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_51209789_G_A", "variantRsId": "rs886051274", "cohortPhenotypes": ["Aromatase deficiency", "Increased aromatase activity", "Pseudohermaphroditism, female, due to placental aromatase deficiency"], "diseaseFromSource": "Aromatase deficiency", "diseaseFromSourceId": "C1960539", "diseaseFromSourceMappedId": "MONDO_0013301", "variantHgvsId": "NC_000015.10:g.51209789G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000296044", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000145476", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_186212608_C_T", "variantRsId": "rs886059294", "cohortPhenotypes": ["Corneal Dystrophy, Recessive"], "diseaseFromSource": "Corneal Dystrophy, Recessive", "diseaseFromSourceId": "CN239343", "variantHgvsId": "NC_000004.12:g.186212608C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000329537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000081923", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57706547_G_T", "variantRsId": "rs145214384", "cohortPhenotypes": ["Byler disease", "Byler's disease", "Progressive familial intrahepatic cholestasis type 1"], "diseaseFromSource": "Progressive familial intrahepatic cholestasis type 1", "diseaseFromSourceId": "C4551898", "diseaseFromSourceMappedId": "MONDO_0008892", "variantHgvsId": "NC_000018.10:g.57706547G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166415", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_53515041_G_GTATATATATGTGTGTATATATATACACACATATATATGTGTA", "variantRsId": "rs1555402394", "cohortPhenotypes": ["Amelogenesis Imperfecta, Recessive"], "diseaseFromSource": "Amelogenesis Imperfecta, Recessive", "diseaseFromSourceId": "CN239209", "variantHgvsId": "NC_000015.10:g.53515042_53515080TA[4]TG[3]TA[5]CA[3]TA[3]TG[2]TA[5]TG[3]TA[5]CA[3]TA[3]TGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339505", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_31547162_G_T", "variantRsId": "rs552933757", "cohortPhenotypes": ["Dilated Cardiomyopathy, Dominant"], "diseaseFromSource": "Dilated Cardiomyopathy, Dominant", "diseaseFromSourceId": "CN239310", "diseaseFromSourceMappedId": "EFO_0009142", "variantHgvsId": "NC_000018.10:g.31547162G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000343150", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "13_40809884_G_A", "variantRsId": "rs886050241", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40809884G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000345155", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000135517", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_56454516_C_T", "variantRsId": "rs139963297", "cohortPhenotypes": ["CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES", "Cataract 15 multiple types"], "diseaseFromSource": "Cataract 15 multiple types", "diseaseFromSourceId": "C3809001", "variantHgvsId": "NC_000012.12:g.56454516C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "CN168056", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000370803", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000138738", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "4_120785105_A_G", "variantRsId": "rs375296023", "cohortPhenotypes": ["Brittle cornea syndrome 2"], "diseaseFromSource": "Brittle cornea syndrome 2", "diseaseFromSourceId": "C3280011", "diseaseFromSourceMappedId": "MONDO_0009242", "variantHgvsId": "NC_000004.12:g.120785105A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000392856", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000411534", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} {"alleleOrigins": ["maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001822951", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091536", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_18171738_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 3", "Deafness, autosomal recessive 3", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 3", "diseaseFromSourceId": "C1838263", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000017.11:g.18171738C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476345", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000183873", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_38585690_C_A", "variantRsId": "rs1060501130", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38585690C>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["6344088"], "studyId": "RCV000011137", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000160211", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154532625_C_T", "variantRsId": "rs137852336", "cohortPhenotypes": ["Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "Class I glucose-6-phosphate dehydrogenase deficiency", "Favism, susceptibility to", "Glucose-6-phosphate dehydrogenase deficiency", "Hemolytic anemia due to G6PD deficiency"], "diseaseFromSource": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "diseaseFromSourceId": "C2720289", "diseaseFromSourceMappedId": "EFO_1000641", "variantHgvsId": "NC_000023.11:g.154532625C>T"} @@ -710,161 +865,6 @@ {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154354843G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154354843G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001481529", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_82088381_C_A", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82088381C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001832466", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "GNE-Related Myopathies", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001978896", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241504247_T_TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["Fumarase deficiency", "Fumarate Hydratase Deficiency", "Fumaric aciduria"], "diseaseFromSource": "Fumarase deficiency", "diseaseFromSourceId": "C0342770", "diseaseFromSourceMappedId": "MONDO_0011730", "variantHgvsId": "NC_000001.11:g.241504248_241504262AAAGA[2]A[4]TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "releaseDate": "2017-05-14", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000647147", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001520269", "releaseDate": "2021-06-15", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "2_73601183_T_C", "variantRsId": "rs1320374", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73601183T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000499412", "releaseDate": "2017-08-28", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112827194_C_T", "variantRsId": "rs137854580", "cohortPhenotypes": ["Classic familial adenomatous polyposis", "Familial adenomatous polyposis", "Familial adenomatous polyposis of the colon", "Familial intestinal polyposis", "Familial multiple polyposis", "Familial multiple polyposis syndrome", "Familial polyposis", "Familial polyposis of the colon", "Hereditary polyposis coli"], "diseaseFromSource": "Familial multiple polyposis syndrome", "diseaseFromSourceId": "C0032580", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827194C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "releaseDate": "2018-07-21", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000666985", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001290125", "releaseDate": "2021-01-30", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23561485_T_A", "variantRsId": "rs2059038310", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "cohortPhenotypes": ["CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "OPITZ BBB SYNDROME, TYPE II", "OPITZ BBBG SYNDROME, TYPE II", "OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II", "OPITZ-G SYNDROME, TYPE II", "Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1268591G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1268591G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "Orphanet_183713", "variantHgvsId": "NC_000003.12:g.38140571T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "MONDO_0012839", "variantHgvsId": "NC_000003.12:g.38140571T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52402628G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52402628G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000198920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_6628328_A_G", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000282936", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6628328_A_G", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002057147", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000115904", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_39120324_C_A", "variantRsId": "rs368569135", "cohortPhenotypes": ["Noonan spectrum disorder", "RASopathy", "rasopathies"], "diseaseFromSource": "RASopathy", "diseaseFromSourceId": "C5555857", "diseaseFromSourceMappedId": "EFO_1001502", "variantHgvsId": "NC_000002.12:g.39120324C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198712", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198786", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198840", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198886", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198899", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198938", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000212907", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000228253", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "MONDO_0009068", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198712", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198786", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198840", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198886", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198899", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000198938", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000212907", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000228253", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Cytochrome-c oxidase deficiency", "Cytochrome-c oxidase deficiency disease", "Deficiency of mitochondrial respiratory chain complex4", "MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1", "Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV002248369", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000144191", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_98396402_CAG_C", "cohortPhenotypes": ["Achromatopsia 2", "Colorblindness, total", "Rod monochromacy 2", "Rod monochromatism 2"], "diseaseFromSource": "Achromatopsia 2", "diseaseFromSourceId": "C1857618", "diseaseFromSourceMappedId": "MONDO_0018852", "variantHgvsId": "NC_000002.12:g.98396403AG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, ankyrin-B-related"], "diseaseFromSource": "Cardiac arrhythmia, ankyrin-B-related", "diseaseFromSourceId": "C1970119", "variantHgvsId": "NC_000004.12:g.113358266A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002253853", "releaseDate": "2022-06-10", "targetFromSourceId": "ENSG00000154122", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "5_14751257_G_C", "cohortPhenotypes": ["Craniometaphyseal dysplasia Jackson type", "Craniometaphyseal dysplasia, autosomal dominant"], "diseaseFromSource": "Craniometaphyseal dysplasia, autosomal dominant", "diseaseFromSourceId": "C1852502", "diseaseFromSourceMappedId": "MONDO_0015465", "variantHgvsId": "NC_000005.10:g.14751257G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000043259", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "MONDO_0018614", "variantHgvsId": "NC_000005.10:g.45695795G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000005.10:g.45695795G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132529", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47478436_A_G", "variantRsId": "rs587782891", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47478436A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25302331C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25302331C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000571846", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_95124382_C_T", "variantRsId": "rs1347290726", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "Orphanet_2637", "variantHgvsId": "NC_000021.9:g.46363881T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000772538", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000775105", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001013688", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780280_T_C", "variantRsId": "rs1603333030", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049625", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237445471_G_A", "variantRsId": "rs371121679", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237445471G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001079914", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_99467624_C_G", "variantRsId": "rs149478021", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99467624C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001301713", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237614188_A_C", "variantRsId": "rs760479688", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237614188A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001358788", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000001.11:g.43920904C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000001.11:g.43920904C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807043", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156829362_A_G", "variantRsId": "rs17318151", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.156829362A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001810029", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63472400_C_T", "variantRsId": "rs2082239153", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63472400C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000009.12:g.128626514C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000009.12:g.128626514C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001958601", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "14_95106197_C_CGACCCGTT", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95106199_95106200insCCCGTTGA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002042360", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000083093", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23624082_G_T", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000016.10:g.23624082G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083531", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000114054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_136256549_T_C", "cohortPhenotypes": ["Glycinemia, ketotic", "Hyperglycinemia with ketoacidosis and leukopenia", "Ketotic hyperglycinemia", "Propionic acidemia"], "diseaseFromSource": "Propionic acidemia", "diseaseFromSourceId": "C0268579", "diseaseFromSourceMappedId": "MONDO_0011628", "variantHgvsId": "NC_000003.12:g.136256549T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000003.12:g.50366179G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000003.12:g.50366179G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002182174", "releaseDate": "2022-06-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "1_237806124_T_C", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237806124T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244130", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000164692", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "7_94418537_CA_C", "cohortPhenotypes": ["EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "Ehlers-danlos syndrome, arthrochalasia type, 2"], "diseaseFromSource": "Ehlers-danlos syndrome, arthrochalasia type, 2", "diseaseFromSourceId": "CN293783", "diseaseFromSourceMappedId": "Orphanet_1899", "variantHgvsId": "NC_000007.14:g.94418538del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244189", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV002250420", "releaseDate": "2022-06-01", "targetFromSourceId": "ENSG00000135100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_120999579_AGCATCCAGCACCT_GGCATCCAGCACC", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000012.12:g.120999579_120999592delinsGGCATCCAGCACC"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115638", "releaseDate": "2014-05-17", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214781250_C_CT", "variantRsId": "rs587780033", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214781257dup"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000226635", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000160957", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "8_144514533_T_C", "variantRsId": "rs373357384", "cohortPhenotypes": ["Baller-Gerold syndrome", "Craniosynostosis radial aplasia syndrome", "Craniosynostosis with radial defects"], "diseaseFromSource": "Baller-Gerold syndrome", "diseaseFromSourceId": "C0265308", "diseaseFromSourceMappedId": "MONDO_0009039", "variantHgvsId": "NC_000008.11:g.144514533T>C"}