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bedrock.bio

open_targets.evidence_uniprot_variants

import bedrock_bio as bb

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

df = rel.limit(5).pl()  # Polars
df = rel.limit(5).df()  # Pandas
df.head()
id targetFromSourceId diseaseFromSourceMappedId confidence datasourceId datatypeId diseaseFromSource diseaseFromSourceId literature targetModulation variantId variantRsId qualityControls diseaseId targetId publicationDate evidenceDate score version
0 05930d2d126e84858d8b300e5ccd19efa5227fe8 P82279 MONDO_0010818 high uniprot_variants genetic_association Retinitis pigmentosa 12 OMIM:600105 [22065545] up_or_down 1_197427544_C_T rs1664649015 [] MONDO_0010818 ENSG00000134376 2011-12-27 2011-12-27 1.0 26.09
1 0717acbc5d84ffb53a78e0f056ce801770c76c0f O95255 Orphanet_758 high uniprot_variants genetic_association Pseudoxanthoma elasticum OMIM:264800 [11536079, 16086317, 17617515, 20034067, 30154... up_or_down 16_16178919_C_T rs67561842 [] Orphanet_758 ENSG00000091262 2001-08-31 2001-08-31 1.0 26.09
2 09b40dc3cc500d5092f20a7f3cc623e66a420550 Q5TAQ9 MONDO_0012411 high uniprot_variants genetic_association Giant axonal neuropathy 2, autosomal dominant OMIM:610100 [24500646] up_or_down 1_160237145_G_A rs587777425 [] MONDO_0012411 ENSG00000132716 2014-02-05 2014-02-05 1.0 26.09
3 0ad29fd7de71101cab80f508a9bb5f833c92e7a2 P06858 MONDO_0009387 high uniprot_variants genetic_association Hyperlipoproteinemia 1 OMIM:238600 [8288243] up_or_down 8_19954199_C_G rs118204076 [] MONDO_0009387 ENSG00000175445 1993-11-01 1993-11-01 1.0 26.09
4 123dedb4acdfa57bc3cb275d4312c4e787d75e28 Q12809 Orphanet_101016 high uniprot_variants genetic_association Long QT syndrome 2 OMIM:613688 [10973849] up_or_down 7_150947821_G_A rs76420733 [] MONDO_0019171 ENSG00000055118 2000-09-01 2000-09-01 1.0 26.09

Description

Section titled “Description”

Disease-target evidence based on disease causing protein sequence alteration curated by the Uniprot team [Target-Disease]

Partitions

Section titled “Partitions”

Not partitioned.

Schema

Section titled “Schema”
Column Type Description
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
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
targetModulation TEXT Description of target modulation event
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
targetId TEXT Open Targets target 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
version TEXT Open Targets Platform release version (major.minor), e.g. 26.09. Added during ingest.