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bedrock.bio

omim_medgen_relationships

Identifier

Section titled “Identifier”
ncbi_gene.omim_medgen_relationships

Description

Section titled “Description”

Curated relationships from OMIM phenotype entries to MedGen clinical-genetics concepts and, when known, associated NCBI Gene records.

Each relationship combines the distinct source assertions and qualifier comments reported for it.

Partitions

Section titled “Partitions”

Not partitioned.

Schema

Section titled “Schema”
Column Type Description
sources STRUCT(url TEXT, filename TEXT, last_modified_at TIMESTAMPTZ, sha256 TEXT)[] Source provenance for the row.
omim_number TEXT Six-digit identifier for an OMIM phenotype entry.
gene_id TEXT NCBI Gene identifier associated with the phenotype, if known.
medgen_cui TEXT MedGen/UMLS concept unique identifier for the phenotype, if supplied.
assertions STRUCT(source TEXT, comment TEXT)[] Source assertions for this OMIM, MedGen, and NCBI Gene relationship, each with a source and optional qualifier comment; empty when none is supplied.