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bedrock.bio

open_targets.evidence_eva

import bedrock_bio as bb

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

df = rel.limit(5).pl()  # Polars
df = rel.limit(5).df()  # Pandas
df.head()
targetId id targetFromSourceId diseaseFromSourceMappedId alleleOrigins allelicRequirements clinicalSignificances cohortPhenotypes confidence datasourceId ... variantId variantRsId qualityControls diseaseId publicationDate evidenceDate score directionOnTrait directionOnTarget version
0 ENSG00000075043 00390b0868a26b434bd38c144b01b8d713b319ee ENSG00000075043 MONDO_0800491 [germline] <NA> [pathogenic] [Early infantile epileptic encephalopathy, Ear... criteria provided, single submitter eva ... 20_63439602_G_A rs2516418427 [] EFO_1000643 None 2026-02-23 0.92 risk NaN 26.09
1 ENSG00000155657 00395cf244c95de40263b80b9322841a00eb87bd ENSG00000155657 MONDO_0011400 [germline] <NA> [uncertain significance] [Autosomal recessive limb-girdle muscular dyst... criteria provided, single submitter eva ... 2_178790708_C_A NaN [] MONDO_0011400 None 2026-02-23 0.32 NaN NaN 26.09
2 ENSG00000059573 003de8e68a7d67461496302c01dffddfa6342ad8 ENSG00000059573 MONDO_0015091 [germline] <NA> [uncertain significance] [Autosomal dominant spastic paraplegia type 9,... criteria provided, single submitter eva ... 10_95611409_A_G NaN [] MONDO_0015091 None 2026-02-23 0.32 NaN NaN 26.09
3 ENSG00000182472 006885214649bb6933dab92054ce2a9ab3de57b2 ENSG00000182472 MONDO_0007763 <NA> <NA> [evidence only] [Nonpapillary renal cell carcinoma] no classification provided eva ... 19_38734140_A_T NaN [] MONDO_0007763 None 2025-11-02 0.00 NaN LoF 26.09
4 ENSG00000127663 007feb9e76997fa6592bc1d91d68ea8a5a0e19b6 ENSG00000127663 MONDO_0003847 [germline] <NA> [uncertain significance] [Inborn genetic diseases] criteria provided, single submitter eva ... 19_5135378_G_A rs372432575 [] MONDO_0003847 None 2023-02-07 0.32 NaN NaN 26.09

Description

Section titled “Description”

Disease-target evidence based on germline variation from ClinVar, provided by the European Variation Archive [Target-Disease]

Partitions

Section titled “Partitions”

Not partitioned.

Schema

Section titled “Schema”
Column Type Description
targetId TEXT Open Targets target identifier
id TEXT Identifer of the disease/target evidence
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
alleleOrigins TEXT[] Origin of the variant allele
allelicRequirements TEXT[] Inheritance patterns
clinicalSignificances TEXT[] Standard terms to define clinical significance
cohortPhenotypes TEXT[] Clinical features/phenotypes observed in studied individuals
confidence TEXT Confidence qualifier on the reported evidence
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
literature TEXT[] List of PubMed or preprint reference identifiers
releaseDate TEXT Date of the release of the data in a ‘YYYY-MM-DD’ format
studyId TEXT Identifier of the study generating the data
variantFromSourceId TEXT Identifier of the disease-causing variant at source
variantFunctionalConsequenceId TEXT Sequence ontology (SO) identifier of the functional consequence of the variant [bioregistry:so]
variantHgvsId TEXT Identifier in HGVS notation of the disease-causing variant
variantId TEXT Identifier in CHROM_POS_REF_ALT notation of the disease-causing variant
variantRsId TEXT Variant reference SNP cluster ID (Rsid)
qualityControls TEXT[] Evidence quality flags
diseaseId TEXT Open Targets disease identifier
publicationDate TEXT Date of the earliest publication supporting the evidence
evidenceDate TEXT Earliest data for the evidence
score DOUBLE Score of the evidence reflecting the strength of the disease/target relationship
directionOnTrait TEXT Predicted direction of effect on the trait
directionOnTarget TEXT Gain or loss of function effect of the evidence on the target resulting from genetic variants, pharmacological modulation, or other perturbations
version TEXT Open Targets Platform release version (major.minor), e.g. 26.09. Added during ingest.