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bedrock.bio

open_targets.evidence_clingen

import bedrock_bio as bb

rel = bb.load_table('open_targets.evidence_clingen')

df = rel.limit(5).pl()  # Polars
df = rel.limit(5).df()  # Pandas
df.head()
targetFromSourceId diseaseFromSourceMappedId datasourceId datatypeId diseaseFromSource diseaseFromSourceId allelicRequirements urls confidence releaseDate studyId qualityControls diseaseId targetId id evidenceDate score version
0 ARFGEF1 MONDO_0859263 clingen genetic_literature developmental delay, impaired speech, and beha... MONDO:0859263 [AD] [{'niceName': None, 'url': 'https://search.cli... Definitive 2025-11-21 Syndromic Disorders Gene Curation Expert Panel [] MONDO_0859263 ENSG00000066777 04e55ac551f7e18f3b4f36bc80f42f724737a5ee 2025-11-21 1.00 26.09
1 ANOS1 MONDO_0010635 clingen genetic_literature hypogonadotropic hypogonadism 1 with or withou... MONDO:0010635 [XL] [{'niceName': None, 'url': 'https://search.cli... Definitive 2022-05-17 Syndromic Disorders Gene Curation Expert Panel [] MONDO_0010635 ENSG00000011201 16e375ded69ac2361d91c962527e3c639c8a16d3 2022-05-17 1.00 26.09
2 HBA2 MONDO_0018023 clingen genetic_literature methemoglobinemia, alpha type MONDO:0020835 [AD] [{'niceName': None, 'url': 'https://search.cli... Limited 2024-03-28 General Gene Curation Expert Panel [] MONDO_0018023 ENSG00000188536 18c11bf45c686f127e1ca089d44b5cbd48c59181 2024-03-28 0.01 26.09
3 ABCD3 MONDO_0014564 clingen genetic_literature congenital bile acid synthesis defect 5 MONDO:0014564 [AR] [{'niceName': None, 'url': 'https://search.cli... Limited 2025-07-08 Peroxisomal Disorders Gene Curation Expert Panel [] MONDO_0014564 ENSG00000117528 600fc9783252674dbfe7f9df0c3181dd57eba671 2025-07-08 0.01 26.09
4 PCK1 MONDO_0009866 clingen genetic_literature phosphoenolpyruvate carboxykinase deficiency, ... MONDO:0009866 [AR] [{'niceName': None, 'url': 'https://search.cli... Definitive 2026-04-24 General Inborn Errors of Metabolism Gene Curat... [] MONDO_0009866 ENSG00000124253 796e755385b0a3d55a7a772a45ab6a7510a96e39 2026-04-24 1.00 26.09

Description

Section titled “Description”

Disease-target evidence from Gene Disease Validity Curation of ClinGen [Target-Disease]

Partitions

Section titled “Partitions”

Not partitioned.

Schema

Section titled “Schema”
Column Type Description
targetFromSourceId TEXT Target ID in resource of origin (accepted sources include Ensembl gene ID, Uniprot ID, gene symbol), only capital letters are accepted
diseaseFromSourceMappedId TEXT Mapped Open Targets disease identifier
datasourceId TEXT Identifer of the evidence source
datatypeId TEXT Type of the evidence
diseaseFromSource TEXT Disease label from the original source
diseaseFromSourceId TEXT Disease identifier from the original source
allelicRequirements TEXT[] Inheritance patterns
urls STRUCT(niceName TEXT, url TEXT)[] Reference to linked external resource (e.g. clinical trials, studies, package inserts, reports, etc.)
confidence TEXT Confidence qualifier on the reported evidence
releaseDate TEXT Date of the release of the data in a ‘YYYY-MM-DD’ format
studyId TEXT Identifier of the study generating the data
qualityControls TEXT[] Evidence quality flags
diseaseId TEXT Open Targets disease identifier
targetId TEXT Open Targets target identifier
id TEXT Identifer of the disease/target evidence
evidenceDate TEXT Earliest data for the evidence
score DOUBLE Score of the evidence reflecting the strength of the disease/target relationship
version TEXT Open Targets Platform release version (major.minor), e.g. 26.09. Added during ingest.