diff --git a/README.md b/README.md index 242ecdc..6dd4ddc 100644 --- a/README.md +++ b/README.md @@ -6,13 +6,11 @@ Pipeline to provide evidence strings for Open Targets from PharmGKB # Download data export DATA_DIR= wget https://api.pharmgkb.org/v1/download/file/data/clinicalAnnotations.zip -wget https://api.pharmgkb.org/v1/download/file/data/drugs.zip wget https://api.pharmgkb.org/v1/download/file/data/variants.zip wget https://api.pharmgkb.org/v1/download/file/data/relationships.zip unzip -j clinicalAnnotations.zip "*.tsv" -d $DATA_DIR unzip -j clinicalAnnotations.zip "CREATED*.txt" -d $DATA_DIR -unzip -j drugs.zip "*.tsv" -d $DATA_DIR unzip -j variants.zip "*.tsv" -d $DATA_DIR unzip -j relationships.zip "*.tsv" -d $DATA_DIR rm clinicalAnnotations.zip drugs.zip variants.zip relationships.zip @@ -42,8 +40,7 @@ genotypeAnnotationText | Full annotation string for genotype or allele | `"Patie directionality | Allele function annotation (see Table 2 [here](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253119/)) | `"Decreased function"` haplotypeId | Name of haplotype; can be an allele or a genotype | `"CYP2B6*6"` or `"GSTT1 non-null/non-null"` haplotypeFromSourceId | Internal PGKB identifier for the haplotype | `"PA165818762"` -drugFromSource | Drug name | `"succinylcholine"` -drugFromSourceId | CHEBI ID of drug, mapped through OLS | `"CHEBI_45652"` +drugs | List of drugs (see [below](#drug-representation)) | `[{"drugFromSource": "ivacaftor"}, {"drugFromSource": "lumacaftor"}]` pgxCategory | Pharmacogenomics phenotype category | `"toxicity"` phenotypeText | Phenotype name | `"Malignant Hyperthermia"` phenotypeFromSourceId | EFO ID of phenotype, mapped through ZOOMA / OXO | `"Orphanet_423"` @@ -67,8 +64,9 @@ Below is an example of a complete clinical annotation evidence string: "targetFromSourceId": "ENSG00000196218", "genotype": "del/GAG", "genotypeAnnotationText": "Patients with the rs121918596 del/GAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", - "drugFromSource": "succinylcholine", - "drugId": "CHEBI_45652", + "drugs": [ + {"drugFromSource": "succinylcholine"} + ], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423" @@ -93,3 +91,12 @@ graph TD H --> |Reference + context| D E --> |Alternate alleles| D ``` + +### Drug representation + +The `drugs` property is a list of structs with 2 keys: +* `drugFromSource`: name of the drug from PGKB +* `drugId`: CHEMBL ID, left empty in this pipeline but populated by Open Targets + +Lists of drugs are kept together (rather than exploded into separate evidence strings) when they're known to be annotated as a drug combination. +Currently this is only when they're `/`-separated and associated with a single PGKB chemical ID, as in [ivacaftor / lumacaftor](https://www.pharmgkb.org/chemical/PA166152935). diff --git a/opentargets_pharmgkb/OT_SCHEMA_VERSION b/opentargets_pharmgkb/OT_SCHEMA_VERSION index b8d12d7..fbafd6b 100644 --- a/opentargets_pharmgkb/OT_SCHEMA_VERSION +++ b/opentargets_pharmgkb/OT_SCHEMA_VERSION @@ -1 +1 @@ -2.6.1 \ No newline at end of file +2.7.2 \ No newline at end of file diff --git a/opentargets_pharmgkb/counts.py b/opentargets_pharmgkb/counts.py index 0993ebf..e75f604 100644 --- a/opentargets_pharmgkb/counts.py +++ b/opentargets_pharmgkb/counts.py @@ -20,16 +20,11 @@ def __init__(self): self.exploded_phenotypes = 0 # Output counts (after annotation and exploding) self.evidence_strings = 0 - self.with_chebi = 0 self.with_efo = 0 self.with_consequence = 0 self.with_target_gene = 0 self.with_haplotype = 0 self.resolved_haplotype_id = 0 # indicates we were able to resolve the haplotype to a PGKB internal ID - # Evaluation counts - after annotation but without exploding - self.annot_with_pgkb_genes = 0 - self.annot_with_vep_genes = 0 - self.pgkb_vep_gene_diff = 0 # Variant counts self.total_rs = 0 self.rs_with_alleles = 0 @@ -47,21 +42,12 @@ def report(self): report_str += (f'\t\t4. Exploded by phenotype: {self.exploded_phenotypes}' f' ({format_decimal(self.exploded_phenotypes, self.exploded_drugs)}x)\n') report_str += f'Total evidence strings: {self.evidence_strings}\n' - report_str += f'\tWith CHEBI: {self.with_chebi} ({format_percent(self.with_chebi, self.evidence_strings)})\n' report_str += (f'\tWith EFO phenotype: {self.with_efo}' f' ({format_percent(self.with_efo, self.evidence_strings)})\n') report_str += (f'\tWith functional consequence: {self.with_consequence} ' f'({format_percent(self.with_consequence, self.evidence_strings)})\n') report_str += (f'\tWith target gene: {self.with_target_gene} ' f'({format_percent(self.with_target_gene, self.evidence_strings)})\n') - if self.annot_with_pgkb_genes or self.annot_with_vep_genes: - report_str += f'Gene comparisons per annotation\n' - report_str += (f'\tWith PGKB genes: {self.annot_with_pgkb_genes} ' - f'({format_percent(self.annot_with_pgkb_genes, self.clinical_annotations)})\n') - report_str += (f'\tWith VEP genes: {self.annot_with_vep_genes} ' - f'({format_percent(self.annot_with_vep_genes, self.clinical_annotations)})\n') - report_str += (f'\tPGKB genes != VEP genes: {self.pgkb_vep_gene_diff} ' - f'({format_percent(self.pgkb_vep_gene_diff, self.clinical_annotations)})\n') report_str += f'Total RS: {self.total_rs}\n' report_str += (f'\tWith parsed alleles: {self.rs_with_alleles} ' f'({format_percent(self.rs_with_alleles, self.total_rs)})\n') diff --git a/opentargets_pharmgkb/evidence_generation.py b/opentargets_pharmgkb/evidence_generation.py index 80fa133..5faf9b5 100644 --- a/opentargets_pharmgkb/evidence_generation.py +++ b/opentargets_pharmgkb/evidence_generation.py @@ -13,8 +13,8 @@ from cmat.output_generation.consequence_type import get_so_accession_dict from opentargets_pharmgkb.counts import ClinicalAnnotationCounts -from opentargets_pharmgkb.ontology_apis import get_chebi_iri, get_efo_iri -from opentargets_pharmgkb.pandas_utils import none_to_nan, explode_column, read_tsv_to_df +from opentargets_pharmgkb.ontology_apis import get_efo_iri +from opentargets_pharmgkb.pandas_utils import none_to_nan, split_and_explode_column, read_tsv_to_df from opentargets_pharmgkb.validation import validate_evidence_string from opentargets_pharmgkb.variant_coordinates import Fasta, parse_genotype @@ -30,9 +30,8 @@ def pipeline(data_dir, fasta_path, created_date, output_path): clinical_alleles_path = os.path.join(data_dir, 'clinical_ann_alleles.tsv') clinical_evidence_path = os.path.join(data_dir, 'clinical_ann_evidence.tsv') variants_path = os.path.join(data_dir, 'variants.tsv') - drugs_path = os.path.join(data_dir, 'drugs.tsv') relationships_path = os.path.join(data_dir, 'relationships.tsv') - for p in (clinical_annot_path, clinical_alleles_path, clinical_evidence_path, variants_path, drugs_path): + for p in (clinical_annot_path, clinical_alleles_path, clinical_evidence_path, variants_path): if not os.path.exists(p): logger.error(f'Missing required data file: {p}') raise ValueError(f'Missing required data file: {p}') @@ -41,7 +40,6 @@ def pipeline(data_dir, fasta_path, created_date, output_path): clinical_alleles_table = read_tsv_to_df(clinical_alleles_path) clinical_evidence_table = read_tsv_to_df(clinical_evidence_path) variants_table = read_tsv_to_df(variants_path) - drugs_table = read_tsv_to_df(drugs_path) relationships_table = read_tsv_to_df(relationships_path) # Gather input counts @@ -55,10 +53,10 @@ def pipeline(data_dir, fasta_path, created_date, output_path): merged_with_alleles_table = pd.merge(merged_with_variants_table, clinical_alleles_table, on=ID_COL_NAME, how='left') counts.exploded_alleles = len(merged_with_alleles_table) - exploded_pgx_cat = explode_column(merged_with_alleles_table, 'Phenotype Category', 'split_pgx_category') + exploded_pgx_cat = split_and_explode_column(merged_with_alleles_table, 'Phenotype Category', 'split_pgx_category') counts.exploded_pgx_cat = len(exploded_pgx_cat) - mapped_drugs = explode_and_map_drugs(exploded_pgx_cat, drugs_table) + mapped_drugs = explode_drugs(exploded_pgx_cat) counts.exploded_drugs = len(mapped_drugs) mapped_phenotypes = explode_and_map_phenotypes(mapped_drugs) @@ -84,7 +82,6 @@ def pipeline(data_dir, fasta_path, created_date, output_path): # Gather output counts counts.evidence_strings = len(evidence_table) - counts.with_chebi = evidence_table['chebi'].count() counts.with_efo = evidence_table['efo'].count() counts.with_consequence = evidence_table['consequence_term'].count() counts.with_target_gene = evidence_table['overlapping_gene'].count() + evidence_table['gene_from_pgkb'].count() @@ -284,7 +281,7 @@ def explode_and_map_genes(df): :param df: dataframe to annotate (should have a 'Gene' column) :return: dataframe with 'ensembl_gene_id' column added """ - split_genes = explode_column(df, 'Gene', 'split_gene') + split_genes = split_and_explode_column(df, 'Gene', 'split_gene') ensembl_ids = query_biomart( ('hgnc_symbol', 'split_gene'), [('ensembl_gene_id', 'gene_from_pgkb')], @@ -296,38 +293,18 @@ def explode_and_map_genes(df): return mapped_genes -def explode_and_map_drugs(df, drugs_table): +def explode_drugs(df): """ - Maps drug names to CHEBI IRIs using OLS, falling back on primary drugs data from PharmGKB if needed. - Explodes multiple drugs in a single row. + Explodes multiple drugs in a single row, unless they are known to be a drug combination. :param df: dataframe to annotate (should have a 'Drug(s)' column) - :param drugs_table: drugs dataframe - :return: dataframe with 'chebi' column added + :return: dataframe with 'split_drug' column added """ - split_drugs = explode_column(df, 'Drug(s)', 'split_drug') - # Query OLS in parallel as there are no batch queries currently. - with multiprocessing.Pool(processes=24) as pool: - str_to_iri = { - s: pool.apply(get_chebi_iri, args=(s,)) - for s in split_drugs['split_drug'].drop_duplicates().tolist() - } - mapped_drugs = pd.concat( - split_drugs[split_drugs['split_drug'] == s].assign(chebi=none_to_nan(iri)) - for s, iri in str_to_iri.items() - ) - # Some drugs we can't unambiguously map using OLS, so we rely on primary data provided by PharmGKB. - # Using OLS first ensures we get up-to-date IDs wherever possible. - drugs_table['chebi_id'] = drugs_table['Cross-references'].str.extract(r'CHEBI:(?P\d+)', expand=False) - mapped_drugs = pd.merge(mapped_drugs, drugs_table, left_on='split_drug', right_on='Name', how='left') - mapped_drugs['chebi'].fillna(mapped_drugs['chebi_id'].apply(chebi_id_to_iri), inplace=True) - return mapped_drugs - - -def chebi_id_to_iri(id_): - if pd.notna(id_): - return f'http://purl.obolibrary.org/obo/CHEBI_{id_}' - return None + # Drugs on same row but not explicitly annotated as combinations + split_drugs = split_and_explode_column(df, 'Drug(s)', 'split_drug') + # Drugs explicitly annotated as combinations are kept as a list of drug names + split_drugs = split_and_explode_column(split_drugs, 'split_drug', 'split_drug', sep='/', split_only=True) + return split_drugs def explode_and_map_phenotypes(df): @@ -338,7 +315,7 @@ def explode_and_map_phenotypes(df): :return: dataframe with 'efo' column added """ df['Phenotype(s)'].fillna('', inplace=True) - split_phenotypes = explode_column(df, 'Phenotype(s)', 'split_phenotype') + split_phenotypes = split_and_explode_column(df, 'Phenotype(s)', 'split_phenotype') with multiprocessing.Pool(processes=24) as pool: str_to_iri = { s: pool.apply(get_efo_iri, args=(s,)) @@ -375,8 +352,7 @@ def generate_clinical_annotation_evidence(so_accession_dict, created_date, row): 'directionality': row['Allele Function'], # PHENOTYPE ATTRIBUTES - 'drugFromSource': row['split_drug'], - 'drugFromSourceId': iri_to_code(row['chebi']), + 'drugs': [{'drugFromSource': d} for d in row['split_drug']], 'pgxCategory': row['split_pgx_category'].lower(), 'phenotypeText': row['split_phenotype'], 'phenotypeFromSourceId': iri_to_code(row['efo']) diff --git a/opentargets_pharmgkb/pandas_utils.py b/opentargets_pharmgkb/pandas_utils.py index 16e5829..d4dd88e 100644 --- a/opentargets_pharmgkb/pandas_utils.py +++ b/opentargets_pharmgkb/pandas_utils.py @@ -10,7 +10,7 @@ def none_to_nan(x): return np.nan if x is None else x -def explode_column(df, source_col, target_col, sep=';'): +def split_and_explode_column(df, source_col, target_col, sep=';', split_only=False): """ Splits a string-valued column in dataframe and explodes on the values, storing them in the specified target column. Any white space around the separator will be stripped. @@ -19,8 +19,10 @@ def explode_column(df, source_col, target_col, sep=';'): :param source_col: name of column in df to split :param target_col: destination column name for exploded values :param sep: string separator to split source_col by (default ';') + :param split_only: if True will only split on separator, leaving target_col as a list (default False) :return: dataframe with target_col added """ - split_cols = df.assign(**{target_col: df[source_col].str.split(sep)}).explode(target_col).reset_index(drop=True) - split_cols[target_col] = split_cols[target_col].map(lambda x: str(x).strip() if pd.notna(x) else np.nan) - return split_cols + split_cols = df.assign(**{target_col: df[source_col].str.split(pat=f'\s*{sep}\s*')}) + if not split_only: + split_cols = split_cols.explode(target_col) + return split_cols.reset_index(drop=True) diff --git a/setup.py b/setup.py index f39d33f..98c94ff 100644 --- a/setup.py +++ b/setup.py @@ -10,7 +10,7 @@ def get_requires(): setup(name='opentargets_pharmgkb', - version='0.0.2', + version='0.1.0', packages=find_packages(), package_data={ 'opentargets_pharmgkb': ['OT_SCHEMA_VERSION'] diff --git a/tests/resources/clinical_ann_alleles.tsv b/tests/resources/clinical_ann_alleles.tsv index 8067c86..c550f4f 100644 --- a/tests/resources/clinical_ann_alleles.tsv +++ b/tests/resources/clinical_ann_alleles.tsv @@ -37,3 +37,6 @@ Clinical Annotation ID Genotype/Allele Annotation Text Allele Function 1183621000 A- 202A_376G Patients with one X-chromosome and the A- 202A_376G allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis. III/Deficient 1183621000 B (reference) Patients with one X-chromosome and the reference B (reference) allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes and two copies of the reference B allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes, one copy of the reference B allele (non-deficient, class IV) and one deficient class I-III allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis. IV/Normal 1183621000 Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham Patients with one X-chromosome and the Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham allele (rs5030868 allele A) who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis. II/Deficient +1447979749 CTT/CTT Patients with cystic fibrosis and the rs113993960 CTT/CTT genotype (no copies of the CFTR F508del variant) have an unknown response to the combination drug ivacaftor/lumacaftor as this genotype is not an indication for ivacaftor/lumacaftor. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor. +1447979749 CTT/del Patients with cystic fibrosis and the rs113993960 CTT/del genotype (one copy of the CFTR F508del variant) may experience a limited benefit from treatment with the combination drug of ivacaftor/lumacaftor, as shown by improvement in sweat chloride concentrations CFQ-R questionnaire scores when compared to treatment with placebo. However, ppFEV1, BMI or body weight did not show a significant improvement following ivacaftor/lumacaftor treatment. This genotype is not an indication for use of the combination drug of ivacaftor/lumacaftor according to the FDA-approved drug label for this drug combination. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor. +1447979749 del/del Patients with cystic fibrosis and the rs113993960 del/del genotype (two copies of the F508del variant) may benefit from treatment with the combination drug of ivacaftor/lumacaftor, as shown by improvement in sweat chloride concentrations and/or forced expiratory volume in 1 second (FEV1) when compared to treatment with placebo. This genotype is an indication for use of ivacaftor/lumacaftor according to the FDA-approved drug label for this drug combination. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor. diff --git a/tests/resources/clinical_ann_evidence.tsv b/tests/resources/clinical_ann_evidence.tsv index 78cdc6e..206b3ea 100644 --- a/tests/resources/clinical_ann_evidence.tsv +++ b/tests/resources/clinical_ann_evidence.tsv @@ -94,3 +94,20 @@ Clinical Annotation ID Evidence ID Evidence Type Evidence URL PMID Summary Score 1183621000 1184515977 Variant Phenotype Annotation https://www.pharmgkb.org/variantAnnotation/1184515977 23209099 G6PD Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham (assigned as deficiency phenotype) is associated with Hemolysis and subsequent death when treated with rasburicase in children with Hyperuricemia. 0.25 1183621000 1184515983 Variant Phenotype Annotation https://www.pharmgkb.org/variantAnnotation/1184515983 19654083 G6PD Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham (assigned as deficiency phenotype) is associated with adverse reaction due to rasburicase in men with Neoplasms. 0.25 1183621000 1444699847 Variant Phenotype Annotation https://www.pharmgkb.org/variantAnnotation/1444699847 23989394 G6PD A- 202A_376G (assigned as deficiency phenotype) is associated with Methemoglobinemia when treated with rasburicase in infants with Kidney Failure, Acute. 0.25 +1447979749 PA166152939 Label Annotation https://www.pharmgkb.org/labelAnnotation/PA166152939 Annotation of FDA Label for ivacaftor / lumacaftor and CFTR 100 +1447979749 1449192069 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192069 29126871 Allele del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis. 1.0 +1447979749 1449192108 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192108 28606620 Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis. 2.5 +1447979749 1449192508 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192508 27898234 Genotype CTT/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis. 3.0 +1447979749 1449192520 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192520 27898234 Genotype CTT/del is not associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis. -1.5 +1447979749 1449192588 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192588 25981758 Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis. 2.5 +1447979749 1449192632 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192632 27805836 Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis. 2.75 +1447979749 1449192645 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192645 27805836 Genotype del/del is not associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis. -1.25 +1447979749 1449192689 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192689 29327948 Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis. 2.75 +1447979749 1449192749 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192749 29451946 Genotype del/del is associated with response to ivacaftor and lumacaftor in men with Cystic Fibrosis. 2.5 +1447979749 1449191920 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449191920 28325531 Genotype del/del is associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis. 2.25 +1447979749 1449192352 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1449192352 27334259 Allele del is associated with response to ivacaftor / lumacaftor. 0.25 +1447979749 1446903870 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1446903870 24973281 Genotype del/del is associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis. 2.0 +1447979749 1446903951 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1446903951 24973281 Genotype del/del is associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis. 2.5 +1447979749 1446903975 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1446903975 24973281 Genotype CTT/del is not associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis. -0.375 +1447979749 1448107229 Variant Drug Annotation https://www.pharmgkb.org/variantAnnotation/1448107229 27298017 Genotype del/del is associated with increased response to ivacaftor / lumacaftor in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del. 2.5 + diff --git a/tests/resources/clinical_annotations.tsv b/tests/resources/clinical_annotations.tsv index a2d1b6c..1636d57 100644 --- a/tests/resources/clinical_annotations.tsv +++ b/tests/resources/clinical_annotations.tsv @@ -11,3 +11,4 @@ Clinical Annotation ID Variant/Haplotypes Gene Level of Evidence Level Override 1449566379 rs11065987 3 2.5 Efficacy;Metabolism/PK 1 1 hydrochlorothiazide Hypertension 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1449566379 1448427588 GSTT1 non-null, GSTT1 null GSTT1 3 2.75 Toxicity 1 1 clozapine 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1448427588 1183621000 G6PD A- 202A_376G, G6PD B (reference), G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham G6PD 1A Tier 1 VIP 103.0 Toxicity 21 23 rasburicase Hemolysis;Methemoglobinemia 2023-01-17 https://www.pharmgkb.org/clinicalAnnotation/1183621000 Pediatric +1447979749 rs113993960 CFTR 1A Rare Variant; Tier 1 VIP 123.375 Efficacy 11 16 ivacaftor / lumacaftor Cystic Fibrosis 2021-03-24 https://www.pharmgkb.org/clinicalAnnotation/1447979749 Pediatric diff --git a/tests/resources/expected_output.json b/tests/resources/expected_output.json index e6cb3f8..01d8953 100644 --- a/tests/resources/expected_output.json +++ b/tests/resources/expected_output.json @@ -1,124 +1,127 @@ -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_G,G", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GC", "genotypeAnnotationText": "Patients with the GC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,G", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GT", "genotypeAnnotationText": "Patients with the GT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_G,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "CC", "genotypeAnnotationText": "Patients with the CC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "CT", "genotypeAnnotationText": "Patients with the CT genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "TT", "genotypeAnnotationText": "Patients with the TT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_T,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_G,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159228"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugFromSourceId": "CHEBI_17303", "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_G,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000185917"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype may have increased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AG genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugFromSourceId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugFromSourceId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugFromSourceId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugFromSourceId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugFromSourceId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugFromSourceId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugFromSourceId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugFromSourceId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugFromSourceId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugFromSourceId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugFromSourceId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugFromSourceId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugFromSourceId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugFromSourceId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugFromSourceId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugFromSourceId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugFromSourceId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugFromSourceId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugFromSourceId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugFromSourceId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugFromSourceId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugFromSourceId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugFromSourceId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugFromSourceId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugFromSourceId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugFromSourceId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugFromSourceId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugFromSourceId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugFromSourceId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugFromSourceId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugFromSourceId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugFromSourceId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugFromSourceId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000171189"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugFromSourceId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugFromSourceId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159231"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,A", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,A", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,G", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,G", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_G,G", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugFromSourceId": "CHEBI_5778", "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_G,G", "variantRsId": "rs11065987"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "non-null/non-null", "genotypeAnnotationText": "Patients with the non-null/non-null genotype may have a decreased risk for neutropenia when treated with clozapine as compared to patients with the null/null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugFromSource": "clozapine", "drugFromSourceId": "CHEBI_3766", "pgxCategory": "toxicity", "haplotypeId": "GSTT1 non-null/non-null", "targetFromSourceId": "ENSG00000277656"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null/non-null", "genotypeAnnotationText": "Patients with the null/non-null genotype may have a decreased risk for neutropenia when treated with clozapine as compared to patients with the null/null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugFromSource": "clozapine", "drugFromSourceId": "CHEBI_3766", "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null/non-null", "targetFromSourceId": "ENSG00000277656"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null/null", "genotypeAnnotationText": "Patients with the null/null genotype may have an increased risk for neutropenia when treated with clozapine as compared to patients with the null/non-null or non-null/non-null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugFromSource": "clozapine", "drugFromSourceId": "CHEBI_3766", "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null/null", "targetFromSourceId": "ENSG00000277656"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null", "genotypeAnnotationText": "Patients with the null/null genotype may have an increased risk for neutropenia when treated with clozapine as compared to patients with the null/non-null or non-null/non-null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugFromSource": "clozapine", "drugFromSourceId": "CHEBI_3766", "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null", "haplotypeFromSourceId": "PA166048678", "targetFromSourceId": "ENSG00000277656"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugFromSource": "allopurinol", "drugFromSourceId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "A- 202A_376G", "genotypeAnnotationText": "Patients with one X-chromosome and the A- 202A_376G allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "III/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD A- 202A_376G", "haplotypeFromSourceId": "PA165947827", "targetFromSourceId": "ENSG00000160211"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "B (reference)", "genotypeAnnotationText": "Patients with one X-chromosome and the reference B (reference) allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes and two copies of the reference B allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes, one copy of the reference B allele (non-deficient, class IV) and one deficient class I-III allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "IV/Normal", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD B (reference)", "haplotypeFromSourceId": "PA165947826", "targetFromSourceId": "ENSG00000160211"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "genotypeAnnotationText": "Patients with one X-chromosome and the Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham allele (rs5030868 allele A) who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "II/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "haplotypeFromSourceId": "PA166121127", "targetFromSourceId": "ENSG00000160211"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "A- 202A_376G", "genotypeAnnotationText": "Patients with one X-chromosome and the A- 202A_376G allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "III/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD A- 202A_376G", "haplotypeFromSourceId": "PA165947827", "targetFromSourceId": "ENSG00000160211"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "B (reference)", "genotypeAnnotationText": "Patients with one X-chromosome and the reference B (reference) allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes and two copies of the reference B allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes, one copy of the reference B allele (non-deficient, class IV) and one deficient class I-III allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "IV/Normal", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD B (reference)", "haplotypeFromSourceId": "PA165947826", "targetFromSourceId": "ENSG00000160211"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "genotypeAnnotationText": "Patients with one X-chromosome and the Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham allele (rs5030868 allele A) who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "II/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "haplotypeFromSourceId": "PA166121127", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_G,G", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GC", "genotypeAnnotationText": "Patients with the GC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,G", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "GT", "genotypeAnnotationText": "Patients with the GT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_G,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "CC", "genotypeAnnotationText": "Patients with the CC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "CT", "genotypeAnnotationText": "Patients with the CT genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_C,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotype": "TT", "genotypeAnnotationText": "Patients with the TT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "efficacy", "genotypeId": "21_45514912_G_T,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_G,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159228"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugs": [{"drugFromSource": "morphine"}], "pgxCategory": "toxicity", "genotypeId": "21_36070377_G_G,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000185917"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype may have increased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AG genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugs": [{"drugFromSource": "thalidomide"}], "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugs": [{"drugFromSource": "thalidomide"}], "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugs": [{"drugFromSource": "thalidomide"}], "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378", "variantRsId": "rs4630"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "boceprevir"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2a"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2b"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "ribavirin"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "boceprevir"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2a"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2b"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "ribavirin"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "boceprevir"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2a"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "peginterferon alfa-2b"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugs": [{"drugFromSource": "ribavirin"}], "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic", "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "desflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "enflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "halothane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "isoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "methoxyflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "sevoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "succinylcholine"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "desflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "enflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "halothane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "isoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "methoxyflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "sevoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "succinylcholine"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "desflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "enflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "halothane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "isoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "methoxyflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "sevoflurane"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugs": [{"drugFromSource": "succinylcholine"}], "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "HP_0002047", "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "capecitabine"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "capecitabine"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "capecitabine"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms", "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000171189"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugs": [{"drugFromSource": "irbesartan"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular", "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0002073", "targetFromSourceId": "ENSG00000159231"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,A", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,A", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,G", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_A,G", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_G,G", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugs": [{"drugFromSource": "hydrochlorothiazide"}], "pgxCategory": "metabolism/pk", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537", "genotypeId": "21_14286933_A_G,G", "variantRsId": "rs11065987"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "overall survival", "phenotypeFromSourceId": "EFO_0000638", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "fluorouracil"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFIRI"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugs": [{"drugFromSource": "FOLFOX"}], "pgxCategory": "efficacy", "phenotypeText": "progression-free survival", "variantRsId": "rs45445694"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447979749", "evidenceLevel": "1A", "literature": ["29126871", "28606620", "27898234", "27898234", "25981758", "27805836", "27805836", "29327948", "29451946", "28325531", "27334259", "24973281", "24973281", "24973281", "27298017"], "genotype": "CTT/CTT", "genotypeAnnotationText": "Patients with cystic fibrosis and the rs113993960 CTT/CTT genotype (no copies of the CFTR F508del variant) have an unknown response to the combination drug ivacaftor/lumacaftor as this genotype is not an indication for ivacaftor/lumacaftor. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor.", "drugs": [{"drugFromSource": "ivacaftor"}, {"drugFromSource": "lumacaftor"}], "pgxCategory": "efficacy", "phenotypeText": "Cystic Fibrosis", "phenotypeFromSourceId": "MONDO_0009061", "genotypeId": "21_5010011_CCTT_CCTT,CCTT", "variantRsId": "rs113993960"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447979749", "evidenceLevel": "1A", "literature": ["29126871", "28606620", "27898234", "27898234", "25981758", "27805836", "27805836", "29327948", "29451946", "28325531", "27334259", "24973281", "24973281", "24973281", "27298017"], "genotype": "CTT/del", "genotypeAnnotationText": "Patients with cystic fibrosis and the rs113993960 CTT/del genotype (one copy of the CFTR F508del variant) may experience a limited benefit from treatment with the combination drug of ivacaftor/lumacaftor, as shown by improvement in sweat chloride concentrations CFQ-R questionnaire scores when compared to treatment with placebo. However, ppFEV1, BMI or body weight did not show a significant improvement following ivacaftor/lumacaftor treatment. This genotype is not an indication for use of the combination drug of ivacaftor/lumacaftor according to the FDA-approved drug label for this drug combination. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor.", "drugs": [{"drugFromSource": "ivacaftor"}, {"drugFromSource": "lumacaftor"}], "pgxCategory": "efficacy", "phenotypeText": "Cystic Fibrosis", "phenotypeFromSourceId": "MONDO_0009061", "genotypeId": "21_5010011_CCTT_C,CCTT", "variantRsId": "rs113993960"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447979749", "evidenceLevel": "1A", "literature": ["29126871", "28606620", "27898234", "27898234", "25981758", "27805836", "27805836", "29327948", "29451946", "28325531", "27334259", "24973281", "24973281", "24973281", "27298017"], "genotype": "del/del", "genotypeAnnotationText": "Patients with cystic fibrosis and the rs113993960 del/del genotype (two copies of the F508del variant) may benefit from treatment with the combination drug of ivacaftor/lumacaftor, as shown by improvement in sweat chloride concentrations and/or forced expiratory volume in 1 second (FEV1) when compared to treatment with placebo. This genotype is an indication for use of ivacaftor/lumacaftor according to the FDA-approved drug label for this drug combination. Other genetic and clinical factors may also influence response to ivacaftor/lumacaftor.", "drugs": [{"drugFromSource": "ivacaftor"}, {"drugFromSource": "lumacaftor"}], "pgxCategory": "efficacy", "phenotypeText": "Cystic Fibrosis", "phenotypeFromSourceId": "MONDO_0009061", "genotypeId": "21_5010011_CCTT_C,C", "variantRsId": "rs113993960"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "non-null/non-null", "genotypeAnnotationText": "Patients with the non-null/non-null genotype may have a decreased risk for neutropenia when treated with clozapine as compared to patients with the null/null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugs": [{"drugFromSource": "clozapine"}], "pgxCategory": "toxicity", "haplotypeId": "GSTT1 non-null/non-null", "targetFromSourceId": "ENSG00000277656"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null/non-null", "genotypeAnnotationText": "Patients with the null/non-null genotype may have a decreased risk for neutropenia when treated with clozapine as compared to patients with the null/null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugs": [{"drugFromSource": "clozapine"}], "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null/non-null", "targetFromSourceId": "ENSG00000277656"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null/null", "genotypeAnnotationText": "Patients with the null/null genotype may have an increased risk for neutropenia when treated with clozapine as compared to patients with the null/non-null or non-null/non-null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugs": [{"drugFromSource": "clozapine"}], "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null/null", "targetFromSourceId": "ENSG00000277656"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448427588", "evidenceLevel": "3", "literature": ["27168101"], "genotype": "null", "genotypeAnnotationText": "Patients with the null/null genotype may have an increased risk for neutropenia when treated with clozapine as compared to patients with the null/non-null or non-null/non-null genotype. Other genetic and clinical factors may also influence neutropenia risk.", "drugs": [{"drugFromSource": "clozapine"}], "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null", "haplotypeFromSourceId": "PA166048678", "targetFromSourceId": "ENSG00000277656"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000224608"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000223532"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000206450"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000232126"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000228964"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "981419260", "evidenceLevel": "1A", "literature": ["21545408", "21393610", "21301380", "19696695", "19018717", "18192896", "15743917", "22909208", "22909208", "23669020", "23600531", "23280169", "22348415", "21906289", "17587850", "22017528", "19483528", "22901319", "21790926", "21912425", "24858023", "25115449", "19002350", "21393610", "25257159", "25327504", "26104483", "26632391", "26655481", "26937673", "26996548", "27486401", "25899558", "28509689", "28857441", "29392141", "30383575", "32433341", "25566896", "27835909"], "genotype": "*58:01", "genotypeAnnotationText": "Patients with one or two copies of the HLA-B*58:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis, when treated with allopurinol as compared to patients with no HLA-B*58:01 alleles or negative for the HLA-B*58:01 test. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence the risk of allopurinol-induced adverse reactions.", "directionality": "Presence", "drugs": [{"drugFromSource": "allopurinol"}], "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "haplotypeFromSourceId": "PA165987831", "targetFromSourceId": "ENSG00000234745"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "A- 202A_376G", "genotypeAnnotationText": "Patients with one X-chromosome and the A- 202A_376G allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "III/Deficient", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD A- 202A_376G", "haplotypeFromSourceId": "PA165947827", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "B (reference)", "genotypeAnnotationText": "Patients with one X-chromosome and the reference B (reference) allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes and two copies of the reference B allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes, one copy of the reference B allele (non-deficient, class IV) and one deficient class I-III allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "IV/Normal", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD B (reference)", "haplotypeFromSourceId": "PA165947826", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "genotypeAnnotationText": "Patients with one X-chromosome and the Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham allele (rs5030868 allele A) who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "II/Deficient", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "haplotypeFromSourceId": "PA166121127", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "A- 202A_376G", "genotypeAnnotationText": "Patients with one X-chromosome and the A- 202A_376G allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Patients with two X-chromosomes and the A- 202A_376G allele in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "III/Deficient", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD A- 202A_376G", "haplotypeFromSourceId": "PA165947827", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "B (reference)", "genotypeAnnotationText": "Patients with one X-chromosome and the reference B (reference) allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes and two copies of the reference B allele (non-deficient, class IV) who are treated with rasburicase may have a decreased risk of methemoglobinemia and/or hemolysis as compared to patients with a deficient class I-III allele. Patients with two X-chromosomes, one copy of the reference B allele (non-deficient, class IV) and one deficient class I-III allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "IV/Normal", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD B (reference)", "haplotypeFromSourceId": "PA165947826", "targetFromSourceId": "ENSG00000160211"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183621000", "evidenceLevel": "1A", "literature": ["22190578", "22015451", "18561168", "16204390", "2019023", "2019023", "9369411", "12075750", "22573495", "17387701", "12942574", "23860572", "24750455", "25115783", "25988058", "26033222", "28370399", "29290749", "20196170", "23209099", "19654083", "23989394"], "genotype": "Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "genotypeAnnotationText": "Patients with one X-chromosome and the Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham allele (rs5030868 allele A) who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with another deficient class I-III allele who are treated with rasburicase may have an increased risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV)(rs5030868 allele G). Patients with two X-chromosomes and the Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham variant (rs5030868 allele A) in combination with a non-deficient allele who are treated with rasburicase have an unknown risk of methemoglobinemia and/or hemolysis as compared to patients with two copies of the reference B allele (non-deficient, class IV). Other genetic and clinical factors may also influence risk of drug-induced hemolysis.", "directionality": "II/Deficient", "drugs": [{"drugFromSource": "rasburicase"}], "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "haplotypeFromSourceId": "PA166121127", "targetFromSourceId": "ENSG00000160211"} diff --git a/tests/resources/variants.tsv b/tests/resources/variants.tsv index dda6255..6fcce55 100644 --- a/tests/resources/variants.tsv +++ b/tests/resources/variants.tsv @@ -9,3 +9,4 @@ PA166155187 rs1799752 PA139 ACE NC_000021.9:36146408 78 16 0 0 0 NM_152830.2:c.5 PA166157235 rs371194629 PA35083 HLA-G NC_000021.9:29830805 3 2 0 0 0 XM_011548236.1:c.*65_*80insATTTGT, XM_005249057.1:c.*280_*281insATTTGT, NC_000006.12:g.29830804_29830805insATTTGT, NT_167245.1:g.1099202_1099203insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGT, XM_005249057.1:c.*280_*281insATTTGTTCATGCCT, 371194629, XM_005275122.1:c.*65_*66insATTTGT, XR_247353.1:n.1692-1_1692insATTTGTTCATGCCT, NT_167245.1:g.1099202_1099203insATTTGT, NC_000006.12:g.29830804_29830805=, NG_029039.1:g.8826_8827insATTTGT, NM_002127.5:c.*65_*66insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCACGCCT, rs371194629, NT_167246.1:g.1098910_1098911insATTTGT, XM_005249056.1:c.*65_*66insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGTTCATGCCT, XR_247370.1:n.1692-1_1692insATTTGTTCATGCCT, XM_005274966.1:c.*280_*281insATTTGT, XM_005274967.1:c.*65_*66insATTTGT, XM_005274964.1:c.*65_*66insATTTGTTCATGCCT, XM_011548237.1:c.*65_*80insATTTGT, XM_005275121.1:c.*280_*281insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGT, XM_005249056.1:c.*65_*66insATTTGT, XM_005272810.1:c.*65_*67insATTTGTTCATGCCT, XM_005249058.1:c.*65_*66insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGTTCATGCCT, NC_000006.11:g.29798581_29798582=, XM_005274967.1:c.*65_*66insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGT, XR_247353.1:n.1692-1_1692insATTTGT, XM_005275550.1:c.*76_*80insATTTGTTCATGCCT, NT_167248.2:g.1093570_1093585insATTTGT, XM_011548430.1:c.*65_*80insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGTTCATGCCT, XM_011548431.1:c.*65_*80insATTTGT, NT_167247.1:g.1098860_1098861insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGT, XR_247370.1:n.1692-1_1692insATTTGT, NT_167245.2:g.1093617_1093618insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGT, XM_005275119.1:c.*65_*66insATTTGT, XR_241896.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGT, XM_011548048.1:c.*65_*66insATTTGT, NM_002127.5:c.*65_*66insATTTGTTCATGCCT, XR_247402.1:n.1622_1626insATTTGTTCATGCCT, XM_005275249.1:c.*65_*66insATTTGT, XM_005275249.1:c.*65_*66insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGT, XM_011548430.1:c.*65_*80insATTTGT, XM_005249055.1:c.*65_*66insATTTGT, XR_247423.1:n.1680_1684insATTTGT, NT_167244.2:g.1096416_1096431insATTTGT, XM_005275120.1:c.*65_*66insATTTGT, NG_029039.1:g.8826_8827insATTTGTTCATGCCT, XR_241896.1:n.1692-1_1692insATTTGT, NT_167246.1:g.1098910_1098911insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGT, XM_005275246.1:c.*65_*66insATTTGTTCATGCCT, XM_005275247.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGT, XM_005275120.1:c.*65_*66insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGT, XM_011548237.1:c.*65_*80insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGTTCATGCCT, XM_005275552.1:c.*76_*80insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGTTCATGCCT, XM_005275550.1:c.*76_*80insATTTGT, XR_247402.1:n.1622_1626insATTTGT, XM_011548236.1:c.*65_*80insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGTTCATGCCT, XM_005275246.1:c.*65_*66insATTTGT, XM_005275119.1:c.*65_*66insATTTGTTCATGCCT, NT_167247.1:g.1098860_1098861insATTTGT, XM_005275247.1:c.*65_*66insATTTGTTCATGCCT, NG_029039.1:g.8826_8827=, XM_005274966.1:c.*280_*281insATTTGTTCATGCCT, NC_000006.11:g.29798581_29798582insATTTGT, NT_167248.2:g.1093570_1093585insATTTGTTCATGCCT, XM_005274964.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGTTCATGCCT, XM_011548048.1:c.*65_*66insATTTGTTCATGCCT, NT_167244.2:g.1096416_1096431insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGTTCATGCCT, 16375, XM_011548431.1:c.*65_*80insATTTGTTCATGCCT, NG_029039.1:g.8826_8827insATTTGTTCACGCCT, XM_005272810.1:c.*65_*67insATTTGT, XM_005274965.1:c.*65_*66insATTTGT, XM_005275122.1:c.*65_*66insATTTGTTCATGCCT, NT_167249.2:g.1136835_1136850insATTTGT, NT_167249.2:g.1136835_1136850insATTTGTTCATGCCT, XR_247423.1:n.1680_1684insATTTGTTCATGCCT, XM_005249055.1:c.*65_*66insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGT, XM_005275552.1:c.*76_*80insATTTGTTCATGCCT, XM_005274965.1:c.*65_*66insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGTTCACGCCT, NT_167245.2:g.1093617_1093618insATTTGT, XM_005275121.1:c.*280_*281insATTTGT, XM_005249058.1:c.*65_*66insATTTGT PA166155331 rs45445694 PA134956204,PA359 C18orf56,TYMS NC_000021.9:657646_657712 87 7 0 0 1 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5109=, NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.9:g.657646_657712=, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], TSER, NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657_657712del, NC_000018.10:g.657646_657712=, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], 45445694, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NG_028255.1:g.5054_5109del, NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], rs45445694, NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NC_000018.9:g.657657_657712del, NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9] PA166179453 rs11065987 NC_000021.9:14286933 1 1 0 0 0 17684828, NC_000012.11:g.112072424A>G, NC_000012.11:g.112072424=, NC_000012.12:g.111634620A>G, 11065987, rs11065987, 57294558, NC_000012.12:g.111634620= +PA166157525 rs113993960 PA109 CFTR NC_000021.9:5010012_5010014 40 7 2 0 3 199826652, NC_000007.13:g.117199645_117199648=, NP_000483.3:p.Phe508del, XP_011514053.1:p.Phe538del, 113993960, NC_000007.13:g.117199646_117199648delCTT, NM_000492.3:c.1521_1523delCTT, NC_000007.14:g.117559592_117559594delCTT, XM_011515752.1:c.1611_1613delCTT, XM_011515753.1:c.1278_1280delCTT, NG_016465.4:g.98809_98811del, XM_011515751.1:c.1611_1613delCTT, XP_011514054.1:p.Phe538del, XM_011515754.1:c.1278_1280delCTT, NG_016465.3:g.98809_98811delCTT, XP_011514055.1:p.Phe427del, XP_011514056.1:p.Phe427del, NC_000007.14:g.117559591_117559594=, rs113993960, NP_000483.3:p.Ile507_Phe508=, NC_000007.13:g.117199646_117199648del, NG_016465.4:g.98808_98811=, NC_000007.14:g.117559592_117559594del, NG_016465.4:g.98809_98811delCTT diff --git a/tests/test_evidence_generation.py b/tests/test_evidence_generation.py index 6cdf1d9..ae1fe80 100644 --- a/tests/test_evidence_generation.py +++ b/tests/test_evidence_generation.py @@ -5,7 +5,7 @@ import pytest from opentargets_pharmgkb import evidence_generation -from opentargets_pharmgkb.evidence_generation import get_functional_consequences, explode_and_map_drugs, \ +from opentargets_pharmgkb.evidence_generation import get_functional_consequences, explode_drugs, \ read_tsv_to_df, explode_and_map_genes, get_genotype_ids, get_haplotype_ids from tests.conftest import fasta_path @@ -67,15 +67,15 @@ def test_get_functional_consequences_ref_ref(): assert 'no_sequence_alteration' in annotated_df['consequence_term'].values -def test_explode_and_map_drugs(): - drugs_table = read_tsv_to_df(os.path.join(resources_dir, 'drugs.tsv')) - df = pd.DataFrame(columns=['Drug(s)'], data=[['tamoxifen; fluorouracil'], ['peginterferon alfa-2a']]) - annotated_df = explode_and_map_drugs(df, drugs_table) - assert annotated_df.shape[0] == 3 - annotated_df = annotated_df.set_index('split_drug') - assert annotated_df.loc['tamoxifen']['chebi'] == 'http://purl.obolibrary.org/obo/CHEBI_41774' - assert annotated_df.loc['fluorouracil']['chebi'] == 'http://purl.obolibrary.org/obo/CHEBI_46345' - assert annotated_df.loc['peginterferon alfa-2a']['chebi'] is None +def test_explode_drugs(): + df = pd.DataFrame(columns=['Drug(s)'], + data=[['tamoxifen; fluorouracil'], ['peginterferon alfa-2a'], ['ivacaftor / lumacaftor']]) + annotated_df = explode_drugs(df) + assert annotated_df.shape == (4, 2) + annotated_df = annotated_df.set_index('Drug(s)') + assert len(annotated_df.loc['tamoxifen; fluorouracil']) == 2 + assert len(annotated_df.loc['peginterferon alfa-2a']) == 1 + assert len(annotated_df.loc['ivacaftor / lumacaftor']) == 1 def test_explode_and_map_genes(): diff --git a/tests/test_pandas_utils.py b/tests/test_pandas_utils.py index 443ecbe..5699847 100644 --- a/tests/test_pandas_utils.py +++ b/tests/test_pandas_utils.py @@ -1,10 +1,10 @@ import numpy as np import pandas as pd -from opentargets_pharmgkb.pandas_utils import explode_column +from opentargets_pharmgkb.pandas_utils import split_and_explode_column -def test_explode_column(): +def test_split_and_explode_column(): df = pd.DataFrame([ [1, 'apple; pear; banana'], [2, 'cat;frog'], @@ -21,6 +21,25 @@ def test_explode_column(): [3, 'something', 'something'], [4, np.nan, np.nan] ], columns=['A', 'B', 'C']) - result = explode_column(df, 'B', 'C') + result = split_and_explode_column(df, 'B', 'C') + + assert result.equals(expected) + + +def test_split_and_explode_column_split_only(): + df = pd.DataFrame([ + [1, 'apple1;apple2 / pear / banana'], + [2, 'cat/frog'], + [3, 'something'], + [4, np.nan] + ], columns=['A', 'B']) + + expected = pd.DataFrame([ + [1, 'apple1;apple2 / pear / banana', ['apple1;apple2', 'pear', 'banana']], + [2, 'cat/frog', ['cat', 'frog']], + [3, 'something', ['something']], + [4, np.nan, np.nan] + ], columns=['A', 'B', 'C']) + result = split_and_explode_column(df, 'B', 'C', sep='/', split_only=True) assert result.equals(expected)