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bedrock.bio

open_targets.evidence_genomics_england

import bedrock_bio as bb

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

df = rel.limit(5).pl()  # Polars
df = rel.limit(5).df()  # Pandas
df.head()
id targetFromSourceId diseaseFromSourceMappedId studyId studyOverview confidence cohortPhenotypes diseaseFromSource diseaseFromSourceId literature allelicRequirements datasourceId datatypeId qualityControls diseaseId targetId publicationDate evidenceDate score version
0 0497a29e801130f0762b47f4f9ce000f6778b777 WFS1 MONDO_0005148 26 Diabetes with additional phenotypes suggestive... green [Wolfram syndrome, OMIM:222300, Deafness, auto... Diabetes mellitus, noninsulin-dependent, assoc... OMIM:125853 [27185633, 27217304, 33693650] [BOTH monoallelic and biallelic, autosomal or ... genomics_england genetic_literature [] MONDO_0005148 ENSG00000109501 2016-05-14 2016-05-14 1.0 26.09
1 0e054c2d713f36692402df0b09ea10c25465f0cc BRCA2 MONDO_0012933 55 Breast cancer pertinent cancer susceptibility green [Breast-ovarian cancer, familial, 2, OMIM:6125... Breast-ovarian cancer, familial, 2 OMIM:612555 <NA> [MONOALLELIC, autosomal or pseudoautosomal, NO... genomics_england genetic_literature [] MONDO_0012933 ENSG00000139618 NaN NaN 1.0 26.09
2 1605f2950bacf4b67473f8201276a2db88ae9efd PNPLA6 MONDO_0010152 20 Hereditary ataxia green [Autosomal recessive spastic paraplegia 39 (#6... Oliver-McFarlane syndrome OMIM:603197 <NA> [BIALLELIC, autosomal or pseudoautosomal] genomics_england genetic_literature [] MONDO_0010152 ENSG00000032444 NaN NaN 1.0 26.09
3 19048cc8b570532421898401632a8da4224b9d48 PHKA2 MONDO_0020693 302 Undiagnosed metabolic disorders green [Glycogen storage disease type IX Hepatic phos... Glycogen storage disease, type IXa1 OMIM:306000 [27604308] [X-LINKED: hemizygous mutation in males, biall... genomics_england genetic_literature [] MONDO_0020693 ENSG00000044446 2016-11-01 2016-11-01 1.0 26.09
4 1cae4f1b0ba8ab2741950f21bab2b67815e3ffcd YAP1 MONDO_0007355 294 Ocular coloboma green [Coloboma, ocular, 120433, Coloboma, ocular, w... Coloboma, ocular OMIM:120433 [26209646, 27267789, 24462371] [MONOALLELIC, autosomal or pseudoautosomal, NO... genomics_england genetic_literature [] MONDO_0007355 ENSG00000137693 2014-01-23 2014-01-23 1.0 26.09

Description

Section titled “Description”

Curated disease-target evidence provided by Genomics England PanelApp [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
studyId TEXT Identifier of the study generating the data
studyOverview TEXT Description of the study
confidence TEXT Confidence qualifier on the reported evidence
cohortPhenotypes TEXT[] Clinical features/phenotypes observed in studied individuals
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
allelicRequirements TEXT[] Inheritance patterns
datasourceId TEXT Identifer of the evidence source
datatypeId TEXT Type of the evidence
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.