From aab59d4dc3781e4953ebcb91662a895a6c0ed914 Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 30 Jan 2024 13:58:39 +0000 Subject: [PATCH] update field name --- README.md | 2 +- opentargets_pharmgkb/evidence_generation.py | 2 +- tests/resources/expected_output.json | 72 ++++++++++----------- 3 files changed, 38 insertions(+), 38 deletions(-) diff --git a/README.md b/README.md index 39cfcb6..367a0e2 100644 --- a/README.md +++ b/README.md @@ -41,7 +41,7 @@ genotype | Genotype or allele string | SNP `"TA"`, indel `"del/GAG"`, repeat `"( genotypeAnnotationText | Full annotation string for genotype or allele | `"Patients with the rs121918596 del/GAG genotype may develop malignant hyperthermia when treated with volatile anesthetics [...]"` alleleFunction | 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"` -internalHaplotypeId | Internal PGKB identifier for the haplotype | `"PA165818762"` +haplotypeFromSourceId | Internal PGKB identifier for the haplotype | `"PA165818762"` drugFromSource | Drug name | `"succinylcholine"` drugId | CHEBI ID of drug, mapped through OLS | `"CHEBI_45652"` pgxCategory | Pharmacogenomics phenotype category | `"toxicity"` diff --git a/opentargets_pharmgkb/evidence_generation.py b/opentargets_pharmgkb/evidence_generation.py index 279c1d7..36a18ca 100644 --- a/opentargets_pharmgkb/evidence_generation.py +++ b/opentargets_pharmgkb/evidence_generation.py @@ -406,7 +406,7 @@ def add_variant_haplotype_attributes(so_accession_dict, row, evidence_string): else: evidence_string.update({ 'haplotypeId': row['haplotype_id'], - 'internalHaplotypeId': row['pgkb_haplotype_id'], + 'haplotypeFromSourceId': row['pgkb_haplotype_id'], 'targetFromSourceId': row['gene_from_pgkb'] }) return evidence_string diff --git a/tests/resources/expected_output.json b/tests/resources/expected_output.json index c303a5a..601cc52 100644 --- a/tests/resources/expected_output.json +++ b/tests/resources/expected_output.json @@ -85,39 +85,39 @@ {"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", "drugId": "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", "drugId": "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", "drugId": "CHEBI_3766", "pgxCategory": "toxicity", "haplotypeId": "GSTT1 null/null", "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Drug Hypersensitivity", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "drug reaction with eosinophilia and systemic symptoms", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Epidermal Necrolysis, Toxic", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "severe cutaneous adverse reactions", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "toxicity", "phenotypeText": "Stevens-Johnson Syndrome", "phenotypeFromSourceId": "EFO_0004276", "haplotypeId": "HLA-B*58:01", "internalHaplotypeId": "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.", "alleleFunction": "III/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD A- 202A_376G", "internalHaplotypeId": "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.", "alleleFunction": "IV/Normal", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD B (reference)", "internalHaplotypeId": "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.", "alleleFunction": "II/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Hemolysis", "phenotypeFromSourceId": "EFO_0009473", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "internalHaplotypeId": "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.", "alleleFunction": "III/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD A- 202A_376G", "internalHaplotypeId": "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.", "alleleFunction": "IV/Normal", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD B (reference)", "internalHaplotypeId": "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.", "alleleFunction": "II/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "internalHaplotypeId": "PA166121127", "targetFromSourceId": "ENSG00000160211"} +{"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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "Presence", "drugFromSource": "allopurinol", "drugId": "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.", "alleleFunction": "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.", "alleleFunction": "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.", "alleleFunction": "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.", "alleleFunction": "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.", "alleleFunction": "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.", "alleleFunction": "II/Deficient", "drugFromSource": "rasburicase", "pgxCategory": "toxicity", "phenotypeText": "Methemoglobinemia", "phenotypeFromSourceId": "MONDO_0001117", "haplotypeId": "G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham", "haplotypeFromSourceId": "PA166121127", "targetFromSourceId": "ENSG00000160211"}