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bedrock.bio

open_targets.evidence_orphanet

import bedrock_bio as bb

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

df = rel.limit(5).pl()  # Polars
df = rel.limit(5).df()  # Pandas
df.head()
targetId id targetFromSourceId diseaseFromSourceMappedId datasourceId datatypeId alleleOrigins confidence diseaseFromSource diseaseFromSourceId ... targetFromSource variantFunctionalConsequenceId qualityControls diseaseId publicationDate evidenceDate score directionOnTrait directionOnTarget version
0 ENSG00000103222 24cebabc9b71ab7b86feb0ddc4cbbdf3a629c8c9 ENSG00000103222 MONDO_0019587 orphanet genetic_association [germline, somatic] Assessed Autosomal dominant non-syndromic genetic deafness Orphanet_90635 ... ATP binding cassette subfamily C member 1 (ABC... None [] MONDO_0019587 2019-07-05 2019-07-05 1.0 risk None 26.09
1 ENSG00000121481 263f6e0afdff64d620635b62372f5c0c9b609f0a ENSG00000121481 MONDO_0100038 orphanet genetic_association [germline, somatic] Assessed Non-specific syndromic intellectual disability Orphanet_528084 ... ring finger protein 2 None [] MONDO_0100038 2021-06-01 2021-06-01 1.0 risk None 26.09
2 ENSG00000156509 94181a2e0e0903cc3151b56bff5897dc0425d9f4 ENSG00000156509 EFO_0700088 orphanet genetic_association [germline, somatic] Assessed Male infertility with azoospermia or oligozoos... Orphanet_399805 ... F-box protein 43 None [] EFO_0700088 2019-03-14 2019-03-14 1.0 risk None 26.09
3 ENSG00000179583 af5459e4c96bcaf24c31debe1daecb9a0fd24187 ENSG00000179583 MONDO_0008855 orphanet genetic_association [germline, somatic] Assessed Immunodeficiency by defective expression of MH... Orphanet_572 ... class II major histocompatibility complex tran... None [] MONDO_0008855 NaN NaN 1.0 risk None 26.09
4 ENSG00000182220 cafd73a6348c462f9b4818f196d25d24bc482126 ENSG00000182220 MONDO_0010482 orphanet genetic_association [germline, somatic] Assessed X-linked parkinsonism-spasticity syndrome Orphanet_363654 ... ATPase H+ transporting accessory protein 2 None [] MONDO_0010482 2013-04-16 2013-04-16 1.0 risk None 26.09

Description

Section titled “Description”

Curated collection of rare disase-target evidence from Orphanet [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
datasourceId TEXT Identifer of the evidence source
datatypeId TEXT Type of the evidence
alleleOrigins TEXT[] Origin of the variant allele
confidence TEXT Confidence qualifier on the reported 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
targetFromSource TEXT Target name/synonym or non HGNC symbol in resource of origin
variantFunctionalConsequenceId TEXT Sequence ontology (SO) identifier of the functional consequence of the variant [bioregistry:so]
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.