diff --git a/README.md b/README.md index e145fcf..22c0e6d 100644 --- a/README.md +++ b/README.md @@ -4,7 +4,7 @@ Pipeline to provide evidence strings for Open Targets from PharmGKB ## How to run ``` # Download data -DATA_DIR= +export DATA_DIR= wget https://api.pharmgkb.org/v1/download/file/data/clinicalAnnotations.zip wget https://api.pharmgkb.org/v1/download/file/data/drugs.zip wget https://api.pharmgkb.org/v1/download/file/data/variants.zip @@ -25,21 +25,21 @@ Unless otherwise mentioned, data is taken directly from PharmGKB. Field | Description | Example --|--|-- -datasourceId | Identifier for data source | `"pharmGKB"` +datasourceId | Identifier for data source | `"pharmgkb"` datasourceVersion | Date when data dump was generated, formatted YYYY-MM-DD | `"2023-08-05"` datatypeId | Type of data corresponding to this evidence string (currently only clinical annotation) | `"clinical_annotation"` studyId | Clinical Annotation ID | `"1449309937"` evidenceLevel | Level of evidence (see [here](https://www.pharmgkb.org/page/clinAnnLevels)) | `"1A"` literature | List of PMIDs associated with this clinical annotation | `["11389482", "27857962"]` -variantId | VCF-style (`chr_pos_ref_alt`) identifier of variant; computed as described [below](#variant-coordinate-computation) | `"19_38499645_GGAG_G"` +genotypeId | VCF-style (`chr_pos_ref_allele1,allele2`) identifier of genotype; computed as described [below](#variant-coordinate-computation) | `"19_38499645_GGAG_G,GGAG"` variantRsId | RS ID of variant | `"rs121918596"` -variantFunctionalConsequenceId | Sequence Ontology term, currently from VEP only | `"SO_0001822"` -targetFromSourceId | Ensembl stable gene ID, currently from VEP only | `"ENSG00000196218"` +variantFunctionalConsequenceId | Sequence Ontology term, from VEP | `"SO_0001822"` +targetFromSourceId | Ensembl stable gene ID, from VEP | `"ENSG00000196218"` genotype | Genotype string | SNP `"TA"`, indel `"del/GAG"`, repeat `"(CA)16/(CA)17"` genotypeAnnotationText | Full annotation string for genotype | `"Patients with the rs121918596 del/GAG genotype may develop malignant hyperthermia when treated with volatile anesthetics [...]"` drugFromSource | Drug name | `"succinylcholine"` drugId | CHEBI ID of drug, mapped through OLS | `"CHEBI_45652"` -pgxCategory | Pharmacogenomics phenotype category | `"Toxicity"` +pgxCategory | Pharmacogenomics phenotype category | `"toxicity"` phenotypeText | Phenotype name | `"Malignant Hyperthermia"` phenotypeFromSourceId | EFO ID of phenotype, mapped through ZOOMA / OXO | `"Orphanet_423"` @@ -56,7 +56,7 @@ Below is an example of a complete clinical annotation evidence string: "11389482", "27857962" ], - "variantId": "19_38499645_GGAG_G", + "genotypeId": "19_38499645_GGAG_G,GGAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001822", "targetFromSourceId": "ENSG00000196218", @@ -64,7 +64,7 @@ Below is an example of a complete clinical annotation evidence string: "genotypeAnnotationText": "Patients with the rs121918596 del/GAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", - "pgxCategory": "Toxicity", + "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423" } @@ -75,7 +75,7 @@ Other examples can be found in the [tests](tests/resources/expected_output.json) TODO: describe this in words -````mermaid +```mermaid graph TD J[PharmGKB] H[FASTA files] @@ -89,4 +89,4 @@ graph TD A --> |locations 'Chr+Pos'| D H --> |Reference + context| D E --> |Alternate alleles| D -```` +``` diff --git a/opentargets_pharmgkb/counts.py b/opentargets_pharmgkb/counts.py index d9477c7..5b341aa 100644 --- a/opentargets_pharmgkb/counts.py +++ b/opentargets_pharmgkb/counts.py @@ -28,6 +28,10 @@ def __init__(self): self.annot_with_pgkb_genes = 0 self.annot_with_vep_genes = 0 self.pgkb_vep_gene_diff = 0 + # Variant counts + self.total_rs = 0 + self.rs_with_alleles = 0 + self.rs_with_more_than_2_alleles = 0 def report(self): report_str = f'\nTotal clinical annotations: {self.clinical_annotations}\n' @@ -54,5 +58,10 @@ def report(self): f'({format_percent(self.annot_with_vep_genes, self.clinical_annotations)})\n') report_str += (f'\tPGKB genes != VEP genes: {self.pgkb_vep_gene_diff} ' f'({format_percent(self.pgkb_vep_gene_diff, self.clinical_annotations)})\n') + report_str += f'Total RS: {self.total_rs}\n' + report_str += (f'\tWith parsed alleles: {self.rs_with_alleles} ' + f'({format_percent(self.rs_with_alleles, self.total_rs)})\n') + report_str += (f'\t\tWith >2 alleles: {self.rs_with_more_than_2_alleles} ' + f'({format_percent(self.rs_with_more_than_2_alleles, self.rs_with_alleles)})\n') print(report_str) return report_str diff --git a/opentargets_pharmgkb/evidence_generation.py b/opentargets_pharmgkb/evidence_generation.py index 94ad4e3..f06b9e4 100644 --- a/opentargets_pharmgkb/evidence_generation.py +++ b/opentargets_pharmgkb/evidence_generation.py @@ -2,6 +2,8 @@ import logging import multiprocessing import os +import sys +from collections import defaultdict from itertools import zip_longest import pandas as pd @@ -12,7 +14,8 @@ from opentargets_pharmgkb.counts import ClinicalAnnotationCounts from opentargets_pharmgkb.ontology_apis import get_chebi_iri, get_efo_iri from opentargets_pharmgkb.pandas_utils import none_to_nan, explode_column -from opentargets_pharmgkb.variant_coordinates import Fasta +from opentargets_pharmgkb.validation import validate_evidence_string +from opentargets_pharmgkb.variant_coordinates import Fasta, parse_genotype logging.basicConfig() logger = logging.getLogger(__package__) @@ -58,7 +61,8 @@ def pipeline(data_dir, fasta_path, created_date, output_path, debug_path=None): mapped_phenotypes = explode_and_map_phenotypes(mapped_drugs) counts.exploded_phenotypes = len(mapped_phenotypes) - coordinates_table = get_vcf_coordinates(mapped_phenotypes, fasta_path) + # Coordinates and consequences + coordinates_table = get_genotype_ids(mapped_phenotypes, fasta_path, counts) consequences_table = get_functional_consequences(coordinates_table) # Add clinical evidence with PMIDs @@ -80,8 +84,14 @@ def pipeline(data_dir, fasta_path, created_date, output_path, debug_path=None): generate_clinical_annotation_evidence(so_accession_dict, created_date, row) for _, row in evidence_table.iterrows() ] + # Validate and write + invalid_evidence = False with open(output_path, 'w+') as output: - output.write('\n'.join(json.dumps(ev) for ev in evidence)) + for ev_string in evidence: + if validate_evidence_string(ev_string): + output.write(json.dumps(ev_string)+'\n') + else: + invalid_evidence = True # Final count report if not debug_path: @@ -89,63 +99,103 @@ def pipeline(data_dir, fasta_path, created_date, output_path, debug_path=None): gene_comparison_counts(evidence_table, counts, debug_path=debug_path) counts.report() + # Exit with an error code if any invalid evidence is produced + # Do this at the very end so we still output counts and any valid evidence strings. + if invalid_evidence: + logger.error('Invalid evidence strings occurred, please check the logs for the details') + sys.exit(1) + def read_tsv_to_df(path): return pd.read_csv(path, sep='\t', dtype=str) -def get_vcf_coordinates(df, fasta_path): +def genotype_id(chrom, pos, ref, parsed_genotype): + return f'{chrom}_{pos}_{ref}_{",".join(parsed_genotype)}' if chrom and pos and ref else None + + +def get_genotype_ids(df, fasta_path, counts=None): """ - Get VCF-style coordinates (chr_pos_ref_alt) for dataframe. + Get genotype IDs (chr_pos_ref_allele1,allele2) for dataframe. - :param df: dataframe to annotate (needs 'Genotype/Allele' and 'Variant/Haplotypes' columns) - :return: dataframe with 'vcf_coords' column added + :param df: dataframe to annotate (needs 'Genotype/Allele', 'Variant/Haplotypes', 'Location' columns) + :param fasta_path: path to fasta file to check reference + :param counts: ClinicalAnnotationCounts; if provided will count multi-allelic variants. + :return: dataframe with 'genotype_id' column added """ fasta = Fasta(fasta_path) - # First set a column with all genotypes for a given rs - df_with_coords = pd.merge(df, df.groupby(by=ID_COL_NAME).aggregate( - all_genotypes=('Genotype/Allele', list)), on=ID_COL_NAME) - # Then get coordinates for each row - # TODO Currently this does one call per genotype per RS - # Remove redundant calls once we figure out how to handle genotypes & multiple alts per RS - for i, row in df_with_coords.iterrows(): - df_with_coords.at[i, 'vcf_coords'] = fasta.get_coordinates_for_clinical_annotation( - row['Variant/Haplotypes'], row['Location'], row['all_genotypes']) - return df_with_coords + # First set a column with all genotypes for a given RS + df_with_ids = df.assign(parsed_genotype=df['Genotype/Allele'].apply(parse_genotype)) + df_with_ids = pd.merge(df_with_ids, df_with_ids.groupby(by='Variant/Haplotypes').aggregate( + all_genotypes=('parsed_genotype', list)), on='Variant/Haplotypes') + # Get coordinates (chromsome, position, reference, and all alternate alleles) for each RS + rs_to_coords = {} + for i, row in df_with_ids.drop_duplicates(['Variant/Haplotypes']).iterrows(): + chrom, pos, ref, alleles_dict = fasta.get_chr_pos_ref(row['Variant/Haplotypes'], row['Location'], + row['all_genotypes']) + rs_to_coords[row['Variant/Haplotypes']] = (chrom, pos, ref, alleles_dict) + # Generate per-variant counts, if applicable + if not counts: + continue + counts.total_rs += 1 + if not alleles_dict: + continue + counts.rs_with_alleles += 1 + if len(alleles_dict) <= 2: + continue + counts.rs_with_more_than_2_alleles += 1 + # Use rs_to_coords to generate genotypeId for each genotype + for i, row in df_with_ids.iterrows(): + chrom, pos, ref, alleles_dict = rs_to_coords[row['Variant/Haplotypes']] + if chrom and pos and ref and alleles_dict: + df_with_ids.at[i, 'genotype_id'] = genotype_id(chrom, pos, ref, sorted([alleles_dict[a] + for a in row['parsed_genotype']])) + else: + df_with_ids.at[i, 'genotype_id'] = None + return df_with_ids def get_functional_consequences(df): """ Get functional consequences from VEP. - :param df: dataframe to annotate (needs 'vcf_coords' column) + :param df: dataframe to annotate (needs 'genotype_id' column) :return: dataframe with 'overlapping_gene' and 'consequence_term' columns added """ - vep_id_to_coords = { - coord_id_to_vep_id(x): x for x in df['vcf_coords'].dropna().drop_duplicates().tolist() - } + vep_id_to_genotype_ids = defaultdict(list) + for genotype_id in df['genotype_id'].dropna().drop_duplicates().tolist(): + for vep_id in genotype_id_to_vep_ids(genotype_id): + vep_id_to_genotype_ids[vep_id].append(genotype_id) + # Note that variants in a single genotype will have VEP logic applied independently, i.e. most severe consequence + # for each overlapping gene. with multiprocessing.Pool(processes=24) as pool: all_consequences = [ pool.apply(process_to_list, args=(batch,)) - for batch in grouper(vep_id_to_coords.keys(), 200) + for batch in grouper(vep_id_to_genotype_ids.keys(), 200) ] mapped_consequences = pd.DataFrame(data=[ { - 'vcf_coords': vep_id_to_coords[variant_id], + 'genotype_id': genotype_id, 'overlapping_gene': gene_id, 'consequence_term': consequence_term } for batch in all_consequences for variant_id, gene_id, gene_symbol, consequence_term in batch - ]) - return pd.merge(df, mapped_consequences, on='vcf_coords', how='left') + for genotype_id in vep_id_to_genotype_ids[variant_id] + ]).drop_duplicates() + return pd.merge(df, mapped_consequences, on='genotype_id', how='left') -def coord_id_to_vep_id(coord_id): - """Converts an underscore-separated coordinate identifier (e.g. 15_7237571_C_T) to VEP compatible one.""" +def genotype_id_to_vep_ids(coord_id): + """Converts an underscore-separated genotype identifier (e.g. 15_7237571_C_T,C) to VEP compatible ones.""" id_fields = coord_id.split('_') assert len(id_fields) == 4, 'Invalid identifier supplied (should contain exactly 4 fields)' - return '{} {} . {} {}'.format(*id_fields) + chrom, pos, ref, genotype = id_fields + genotype = genotype.split(',') + for alt in genotype: + # Skip non-variants + if alt != ref: + yield f'{chrom} {pos} . {ref} {alt}' def grouper(iterable, n): @@ -251,7 +301,7 @@ def generate_clinical_annotation_evidence(so_accession_dict, created_date, row): 'literature': [str(x) for x in row['publications']], # VARIANT ATTRIBUTES - 'variantId': row['vcf_coords'], + 'genotypeId': row['genotype_id'], 'variantRsId': row['Variant/Haplotypes'], # 'originalSourceGeneId': row['gene_from_pgkb'], 'variantFunctionalConsequenceId': so_accession_dict.get(row['consequence_term'], None), @@ -264,7 +314,7 @@ def generate_clinical_annotation_evidence(so_accession_dict, created_date, row): # PHENOTYPE ATTRIBUTES 'drugFromSource': row['split_drug'], 'drugId': iri_to_code(row['chebi']), - 'pgxCategory': row['Phenotype Category'], + 'pgxCategory': row['Phenotype Category'].lower(), 'phenotypeText': row['split_phenotype'], 'phenotypeFromSourceId': iri_to_code(row['efo']) } diff --git a/opentargets_pharmgkb/validation.py b/opentargets_pharmgkb/validation.py new file mode 100644 index 0000000..ea20a86 --- /dev/null +++ b/opentargets_pharmgkb/validation.py @@ -0,0 +1,33 @@ +import json +import logging + +import jsonschema +import requests + +logging.basicConfig() +logger = logging.getLogger(__package__) +logger.setLevel(level=logging.DEBUG) + + +def get_ot_json_schema(): + # Temporary schema url for testing + schema_url = 'https://raw.githubusercontent.com/opentargets/json_schema/master/schemas/pharmacogenomics.json' + response = requests.get(schema_url) + if response.ok: + return response.json() + raise ValueError('Problem getting JSON schema') + + +def validate_evidence_string(ev_string): + try: + ot_schema_contents = get_ot_json_schema() + jsonschema.validate(ev_string, ot_schema_contents, format_checker=jsonschema.FormatChecker()) + return True + except jsonschema.exceptions.ValidationError as err: + logger.error('Error: evidence string does not validate against schema.') + logger.error(f'Error message: {err}') + logger.error(f'Complete evidence string: {json.dumps(ev_string)}') + return False + except jsonschema.exceptions.SchemaError: + logger.error('Error: OpenTargets schema file is invalid') + return False diff --git a/opentargets_pharmgkb/variant_coordinates.py b/opentargets_pharmgkb/variant_coordinates.py index 0304aec..34036a9 100644 --- a/opentargets_pharmgkb/variant_coordinates.py +++ b/opentargets_pharmgkb/variant_coordinates.py @@ -29,26 +29,58 @@ def get_chrom_pos_for_rs_from_ensembl(rsid): return None, None +def parse_genotype(genotype_string): + """ + Parse PGKB string representations of genotypes into alleles. + + :param genotype_string: e.g. 'A', 'TA', 'A/del', 'CAG/CAGCAG' + :return: list of alleles in the genotype, e.g. ['A'], ['T','A'], ['A','DEL'], ['CAG','CAGCAG'] + """ + alleles = [] + # X/Y chrom variants + if len(genotype_string) == 1: + alleles.append(genotype_string) + + # SNPs + if len(genotype_string) == 2: + alleles.append(genotype_string[0]) + alleles.append(genotype_string[1]) + + # short indels + m = re.match('([ACGT]+|del)/([ACGT]+|del)', genotype_string, re.IGNORECASE) + if m: + alleles.append(m.group(1)) + alleles.append(m.group(2)) + + if not alleles: + logger.error(f'Could not parse genotype {genotype_string}') + # Normalise to uppercase before returning + return [a.upper() for a in alleles] + + class Fasta: def __init__(self, path_to_fasta): self.record_dict = SeqIO.to_dict(SeqIO.parse(path_to_fasta, 'fasta')) - def get_coordinates_for_clinical_annotation(self, rsid, location, all_genotypes): + def get_chr_pos_ref(self, rsid, location, all_parsed_genotypes): """ - Gets vcf-style coordinate string (chr_pos_ref_alt) using location and genotype information. + Gets chromosome, position, and reference for a variant using location and genotype information. :param rsid: rsID of the variant :param location: string consisting of RefSeq accession and position separated by a colon, e.g. 'NC_000001.11:46399999' - :param all_genotypes: list of genotype strings, e.g. ['TT', 'TA', 'AA'] - :return: string of form chr_pos_ref_alt, or None if coordinates cannot be determined + :param all_parsed_genotypes: list of genotypes parsed into alleles, e.g. [['T', 'T'], ['T','A'], ['A','A']] + :return: tuple of (chr, pos, ref, alleles), or Nones if coordinates cannot be determined. + alleles is a dict mapping allele string as present in all_parsed_genotypes, to an allele string with + context possibly added - e.g. {'AAG': 'CAAG', 'DEL': 'C'} """ if pd.isna(location): - return None + return None, None, None, None chrom, pos = location.strip().split(':') if not chrom or not pos: - return None + return None, None, None, None + chrom_num = self.get_chrom_num_from_refseq(chrom) # Ranges are inclusive of both start and end if '_' in pos: @@ -58,50 +90,27 @@ def get_coordinates_for_clinical_annotation(self, rsid, location, all_genotypes) else: start = end = int(pos) - alleles = set() - contains_del = False - for genotype in all_genotypes: - # X chrom variants - if len(genotype) == 1: - alleles.add(genotype) - continue - # SNPs - if len(genotype) == 2: - alleles.add(genotype[0]) - alleles.add(genotype[1]) - continue - # short indels - m = re.match('([ACGT]+|del)/([ACGT]+|del)', genotype, re.IGNORECASE) - if not m: - logger.info(f'Could not parse genotype for {rsid}: {genotype}') - continue - if m.group(1) == 'del'.lower() or m.group(2).lower() == 'del': - contains_del = True - alleles.add(m.group(1)) - alleles.add(m.group(2)) - + alleles_dict = {alt: alt for genotype in all_parsed_genotypes for alt in genotype} # Correct for deletion alleles - if contains_del: + if 'DEL' in alleles_dict: if end == start: end -= 1 # keep end == start if they began that way start -= 1 - alleles = {self.add_context_base(chrom, start, allele) for allele in alleles} + alleles_dict = {allele: self.add_context_base(chrom, start, allele) for allele in alleles_dict} + + if not alleles_dict: + logger.warning(f'Could not parse any genotypes for {rsid}') + return chrom_num, start, None, None - if not alleles: - logger.warning(f'Could not parse genotypes: {rsid}\t{",".join(all_genotypes)}') - return None ref = self.get_ref_from_fasta(chrom, start, end) - # Remove ref if present among alleles; otherwise report & skip - if ref in alleles: - alts = alleles - {ref} - else: - logger.warning(f'Ref not in alleles: {rsid}\t{ref}\t{",".join(alleles)}') - return None - chrom_num = self.get_chrom_num_from_refseq(chrom) - for alt in sorted(alts): - # TODO multiple IDs for multiple alts? - return f'{chrom_num}_{start}_{ref}_{alt}' - return None + # Report & skip if ref is not among the alleles + # TODO we can now support cases where ref is truly not among the annotated genotypes, but we can't distinguish + # this situation from cases where the reference or location is wrong for some reason. + if ref not in alleles_dict.values(): + logger.warning(f'Ref not in alleles: {rsid}\t{ref}\t{",".join(alleles_dict)}') + return chrom_num, start, None, None + + return chrom_num, start, ref, alleles_dict @lru_cache def get_ref_from_fasta(self, chrom, start, end=None): diff --git a/requirements.txt b/requirements.txt index d06e9f7..552658c 100644 --- a/requirements.txt +++ b/requirements.txt @@ -1,3 +1,4 @@ +jsonschema==3.2.0 numpy==1.24.3 pandas==1.5.3 pytest==7.2.2 diff --git a/tests/resources/expected_output.json b/tests/resources/expected_output.json index cb38d63..97880ba 100644 --- a/tests/resources/expected_output.json +++ b/tests/resources/expected_output.json @@ -1,81 +1,80 @@ -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "GC", "genotypeAnnotationText": "Patients with the GC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "GT", "genotypeAnnotationText": "Patients with the GT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the CC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the CT genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "variantId": "21_45514912_G_C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the TT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "Efficacy"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228", "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917", "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228", "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917", "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228", "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "variantId": "21_36070377_G_A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917", "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "Toxicity"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype may have increased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AG genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "Toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "Toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "Toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "variantId": "21_45537880_T_C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "Efficacy", "phenotypeText": "Hepatitis C, Chronic"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "variantId": "21_45514946_CAAG_C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "Toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "variantId": "21_29830804_T_TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "Colorectal Neoplasms"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "overall survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "Efficacy", "phenotypeText": "progression-free survival"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "variantId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "Efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "variantId": "21_14286933_A_G", "variantRsId": "rs11065987", "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "variantId": "21_14286933_A_G", "variantRsId": "rs11065987", "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} -{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "variantId": "21_14286933_A_G", "variantRsId": "rs11065987", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "Efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} \ No newline at end of file +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_G,G", "variantRsId": "rs4659982", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_C,G", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "GC", "genotypeAnnotationText": "Patients with the GC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_G,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "GT", "genotypeAnnotationText": "Patients with the GT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_C,C", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the CC genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_C,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the CT genotype may have an increased response to allopurinol as compared to patients with the AA, AT or TT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1450375701", "evidenceLevel": "3", "literature": ["30924126"], "genotypeId": "21_45514912_G_T,T", "variantRsId": "rs4659982", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "TT", "genotypeAnnotationText": "Patients with the TT genotype may have a decreased response to allopurinol as compared to patients with the AC, CC or CT genotypes. Other genetic and clinical factors may also affect a patient's response to allopurinol.", "drugFromSource": "allopurinol", "drugId": "CHEBI_40279", "pgxCategory": "efficacy"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228", "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "toxicity"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotypeId": "21_36070377_G_A,A", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917", "genotype": "AA", "genotypeAnnotationText": "Children with the AA genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "toxicity"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000159228", "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "toxicity"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotypeId": "21_36070377_G_A,G", "variantRsId": "rs3766246", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000185917", "genotype": "AG", "genotypeAnnotationText": "Children with the AG genotype who are undergoing a tonsillectomy may have an increased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the GG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "toxicity"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1448603303", "evidenceLevel": "3", "literature": ["25558980"], "genotypeId": "21_36070377_G_G,G", "variantRsId": "rs3766246", "genotype": "GG", "genotypeAnnotationText": "Children with the GG genotype who are undergoing a tonsillectomy may have a decreased risk for post-operative nausea and vomiting (PONV) when treated with morphine as compared to patients with the AA or AG genotype. Other genetic and clinical factors may also influence risk of PONV.", "drugFromSource": "morphine", "drugId": "CHEBI_17303", "pgxCategory": "toxicity"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype may have increased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AG genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1043880328", "evidenceLevel": "3", "literature": ["21435719"], "variantRsId": "rs4630", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype may have decreased likelihood of Neurotoxicity when treated with thalidomide in people with Multiple Myeloma as compared to patients with the AA genotype. Other clinical or genetic factors may also influence a patient's response to thalidomide.", "drugFromSource": "thalidomide", "drugId": "CHEBI_9513", "pgxCategory": "toxicity", "phenotypeText": "Multiple Myeloma", "phenotypeFromSourceId": "EFO_0001378"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "boceprevir", "drugId": "CHEBI_68621", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2a", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "peginterferon alfa-2b", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,C", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CC", "genotypeAnnotationText": "Patients with the rs12979860 CC genotype and hepatitis C infection may have increased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_C,T", "variantRsId": "rs12979860", "variantFunctionalConsequenceId": "SO_0001583", "targetFromSourceId": "ENSG00000173638", "genotype": "CT", "genotypeAnnotationText": "Patients with the rs12979860 CT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1183680546", "evidenceLevel": "1A", "literature": ["27711230", "22626609", "26191484", "26670100", "28469811"], "genotypeId": "21_45537880_T_T,T", "variantRsId": "rs12979860", "genotype": "TT", "genotypeAnnotationText": "Patients with the rs12979860 TT genotype and hepatitis C infection may have decreased response to triple therapy (boceprevir, peginterferon alfa-2a/2b and ribavirin) as compared to patients with the CC genotype. Other genetic and clinical factors may also influence response to boceprevir-peginterferon based therapy.", "drugFromSource": "ribavirin", "drugId": "CHEBI_63580", "pgxCategory": "efficacy", "phenotypeText": "Hepatitis C, Chronic"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "desflurane", "drugId": "CHEBI_4445", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "enflurane", "drugId": "CHEBI_4792", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "halothane", "drugId": "CHEBI_5615", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "isoflurane", "drugId": "CHEBI_6015", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "methoxyflurane", "drugId": "CHEBI_6843", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "sevoflurane", "drugId": "CHEBI_9130", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_CAAG,CAAG", "variantRsId": "rs121918596", "genotype": "AAG/AAG", "genotypeAnnotationText": "Patients with the rs121918596 AAG/AAG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the del/del or del/GAG genotypes. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,CAAG", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/AAG", "genotypeAnnotationText": "Patients with the rs121918596 del/AAG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449309937", "evidenceLevel": "1A", "literature": ["27857962", "11389482"], "genotypeId": "21_45514946_CAAG_C,C", "variantRsId": "rs121918596", "variantFunctionalConsequenceId": "SO_0001624", "targetFromSourceId": "ENSG00000173638", "genotype": "del/del", "genotypeAnnotationText": "Patients with the rs121918596 del/del genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GAG/GAG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.", "drugFromSource": "succinylcholine", "drugId": "CHEBI_45652", "pgxCategory": "toxicity", "phenotypeText": "Malignant Hyperthermia", "phenotypeFromSourceId": "Orphanet_423"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "capecitabine", "drugId": "CHEBI_31348", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_TATTTGTTCATGCCT,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "ATTTGTTCATGCCT/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G ATTTGTTCATGCCT/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_T,TATTTGTTCATGCCT", "variantRsId": "rs371194629", "variantFunctionalConsequenceId": "SO_0001627", "targetFromSourceId": "ENSG00000171189", "genotype": "del/ATTTGTTCATGCCT", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/ATTTGTTCATGCCT genotype may have better response to capecitabine or fluorouracil as compared to patients with the HLA-G del/del genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1447680028", "evidenceLevel": "3", "literature": ["26633805"], "genotypeId": "21_29830804_T_T,T", "variantRsId": "rs371194629", "genotype": "del/del", "genotypeAnnotationText": "Patients with colorectal cancer and the HLA-G del/del genotype may have a worse response to capecitabine or fluorouracil as compared to patients with the HLA-G del/ATTTGTTCATGCCT or ATTTGTTCATGCCT/ATTTGTTCATGCCT genotypes. Other clinical and genetic factors may also influence response to capecitabine or fluorouracil in patients with colorectal cancer.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "Colorectal Neoplasms"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "overall survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "fluorouracil", "drugId": "CHEBI_46345", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFIRI", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 or 2R/2R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/3R or 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 2R/3R genotype may have an increased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 3R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1451114960", "evidenceLevel": "3", "literature": ["19384296", "21919605", "20385995", "20165956", "20932673", "14522928", "15918040", "21167658", "20665215", "25232828", "16249645", "11913730", "28972045"], "variantRsId": "rs45445694", "genotype": "(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3", "genotypeAnnotationText": "Patients with the rs45445694 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 or 3R/3R genotype may have a decreased response or survival when treated with fluorouracil chemotherapy regimens as compared to patients with the 2R/2R or 2R/3R genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to fluorouracil chemotherapy.", "drugFromSource": "FOLFOX", "pgxCategory": "efficacy", "phenotypeText": "progression-free survival"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype may have an increased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del or del/del genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_T,TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC", "variantRsId": "rs1799752", "variantFunctionalConsequenceId": "SO_0001587", "targetFromSourceId": "ENSG00000159231", "genotype": "ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1444668808", "evidenceLevel": "3", "literature": ["11593098", "11910301"], "genotypeId": "21_36146407_T_T,T", "variantRsId": "rs1799752", "genotype": "del/del", "genotypeAnnotationText": "Hypertensive patients with the rs1799752 del/del genotype may have a decreased response to irbesartan as compared to patients with the ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence response to irbesartan.", "drugFromSource": "irbesartan", "drugId": "CHEBI_5959", "pgxCategory": "efficacy", "phenotypeText": "Hypertrophy, Left Ventricular"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotypeId": "21_14286933_A_A,A", "variantRsId": "rs11065987", "genotype": "AA", "genotypeAnnotationText": "Patients with the AA genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AG or GG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotypeId": "21_14286933_A_A,G", "variantRsId": "rs11065987", "genotype": "AG", "genotypeAnnotationText": "Patients with the AG genotype and hypertension may have an increased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the GG genotype, but a decreased response as compared to patients with the AA genotype. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} +{"datasourceId": "pharmgkb", "datasourceVersion": "2023-03-23", "datatypeId": "clinical_annotation", "studyId": "1449566379", "evidenceLevel": "3", "literature": ["29925376"], "genotypeId": "21_14286933_A_G,G", "variantRsId": "rs11065987", "genotype": "GG", "genotypeAnnotationText": "Patients with the GG genotype and hypertension may have a decreased response to hydrochlorothiazide treatment, as measured by decreases in systolic and diastolic blood pressure, as compared to patients with the AA or AG genotypes. Other genetic and clinical factors may also affect a patient's response to hydrochlorothiazide.", "drugFromSource": "hydrochlorothiazide", "drugId": "CHEBI_5778", "pgxCategory": "efficacy", "phenotypeText": "Hypertension", "phenotypeFromSourceId": "EFO_0000537"} diff --git a/tests/test_evidence_generation.py b/tests/test_evidence_generation.py index 5624dd4..4dbaa6d 100644 --- a/tests/test_evidence_generation.py +++ b/tests/test_evidence_generation.py @@ -6,14 +6,28 @@ from opentargets_pharmgkb import evidence_generation from opentargets_pharmgkb.evidence_generation import get_functional_consequences, explode_and_map_drugs, \ - read_tsv_to_df, explode_and_map_genes + read_tsv_to_df, explode_and_map_genes, get_genotype_ids from tests.conftest import fasta_path resources_dir = os.path.join(os.path.dirname(__file__), 'resources') +def test_get_genotype_ids(): + df = pd.DataFrame(columns=['Variant/Haplotypes', 'Location', 'Genotype/Allele'], + data=[['rs1051266', 'NC_000021.9:33341701', 'GG'], + ['rs1051266', 'NC_000021.9:33341701', 'GT'], + ['rs1051266', 'NC_000021.9:33341701', 'GA'], + ['rs1051266', 'NC_000021.9:33341701', 'TA']]) + annotated_df = get_genotype_ids(df, fasta_path) + assert set(annotated_df['genotype_id'].values) == { + '21_33341701_G_G,G', + '21_33341701_G_G,T', + '21_33341701_G_A,G', + '21_33341701_G_A,T'} + + def test_get_functional_consequences(): - df = pd.DataFrame(columns=['vcf_coords'], data=[['10_100980986_C_T']]) + df = pd.DataFrame(columns=['genotype_id'], data=[['10_100980986_C_C,T']]) annotated_df = get_functional_consequences(df) assert annotated_df.shape == (2, 3) assert 'ENSG00000095539' in annotated_df['overlapping_gene'].values diff --git a/tests/test_variant_coordinates.py b/tests/test_variant_coordinates.py index cc3332b..324657a 100644 --- a/tests/test_variant_coordinates.py +++ b/tests/test_variant_coordinates.py @@ -1,53 +1,38 @@ -from opentargets_pharmgkb.variant_coordinates import Fasta +from opentargets_pharmgkb.variant_coordinates import Fasta, parse_genotype -def test_get_coordinates(fasta: Fasta): - assert fasta.get_coordinates_for_clinical_annotation( - 'rs1051266', - 'NC_000021.9:33341701', - ['GG', 'GT', 'TT']) == '21_33341701_G_T' - # Use of different alt allele in genotypes generates a different identifier - assert fasta.get_coordinates_for_clinical_annotation( - 'rs1051266', - 'NC_000021.9:33341701', - ['GG', 'GA', 'AA']) == '21_33341701_G_A' +def test_parse_genotype(): + assert parse_genotype('TC') == ['T', 'C'] + assert parse_genotype('CAG/CAG') == ['CAG', 'CAG'] + assert parse_genotype('A/del') == ['A', 'DEL'] -def test_get_coordinates_multiple_alts(fasta: Fasta): - # More than two alleles present in genotypes - TODO update once we decide how to treat these - assert fasta.get_coordinates_for_clinical_annotation( +def test_get_coordinates(fasta: Fasta): + assert fasta.get_chr_pos_ref( 'rs1051266', 'NC_000021.9:33341701', - ['GG', 'GT', 'GA', 'TA']) == '21_33341701_G_A' + [['G', 'G'], ['G', 'T'], ['T', 'T']]) == ('21', 33341701, 'G', {'G': 'G', 'T': 'T'}) def test_get_coordinates_deletion(fasta: Fasta): - assert fasta.get_coordinates_for_clinical_annotation( + assert fasta.get_chr_pos_ref( 'rs1051266', 'NC_000021.9:33341701', - ['TGGCGCGTCCCGCCCAGGT/TGGCGCGTCCCGCCCAGGT', 'TGGCGCGTCCCGCCCAGGT/del', 'del/del'] - ) == '21_33341700_A_ATGGCGCGTCCCGCCCAGGT' - - -def test_get_coordinates_hybrid_genotype_format(fasta: Fasta): - assert fasta.get_coordinates_for_clinical_annotation( - 'rs35068180', - 'NC_000021.9:45514917', - ['A/del', 'AA', 'del/del'] - ) == '21_45514916_T_TA' + [['TGGCGCGTCCCGCCCAGGT', 'TGGCGCGTCCCGCCCAGGT'], ['TGGCGCGTCCCGCCCAGGT', 'DEL'], ['DEL', 'DEL']] + ) == ('21', 33341700, 'A', {'DEL': 'A', 'TGGCGCGTCCCGCCCAGGT': 'ATGGCGCGTCCCGCCCAGGT'}) def test_get_coordinates_range_location(fasta: Fasta): - assert fasta.get_coordinates_for_clinical_annotation( + assert fasta.get_chr_pos_ref( 'rs1051266', 'NC_000021.9:33341701_33341703', - ['GAC/GAC', 'GAC/del', 'del/del'] - ) == '21_33341700_AGAC_A' + [['GAC', 'GAC'], ['GAC', 'DEL'], ['DEL', 'DEL']] + ) == ('21', 33341700, 'AGAC', {'DEL': 'A', 'GAC': 'AGAC'}) def test_get_coordinates_not_match_reference(fasta: Fasta): - assert fasta.get_coordinates_for_clinical_annotation( + assert fasta.get_chr_pos_ref( 'rs1051266', 'NC_000021.9:33341701_33341703', - ['TTT/TTT', 'TTT/del', 'del/del'] - ) == None + [['TTT', 'TTT'], ['TTT', 'DEL'], ['DEL', 'DEL']] + ) == ('21', 33341700, None, None)