-
Notifications
You must be signed in to change notification settings - Fork 10
Commit
This commit does not belong to any branch on this repository, and may belong to a fork outside of the repository.
- Loading branch information
1 parent
4fb0d28
commit facb45d
Showing
7 changed files
with
17 additions
and
18 deletions.
There are no files selected for viewing
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -1,9 +1,9 @@ | ||
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 | ||
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://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_118803|solute carrier family 25 member 22|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.5.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_4.5.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 | ||
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 | ||
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 | ||
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_1040010|IRF6-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED 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_4.5.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.5.owl|NOT_CONTAINED | ||
blepharophimosis, ptosis, and epicanthus inversus, type i 1 http://identifiers.org/medgen/C2931135|BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C2931135|BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I|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://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 | ||
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_4.5.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_4.5.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED | ||
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 | ||
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 | ||
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_4.5.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_565782|Methotrexate toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.5.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 |
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters