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Diagnosis Safe Moderate Evidence
G2P get record
by Harvard MIMS Lab (ToolUniverse)
Description
Get detailed Gene2Phenotype (G2P) record for a specific gene-disease association by its stable ID. Returns comprehensive clinical genetics information including locus details (gene symbol, genomic coordinates, cross-references), genotype/inheritance pattern, variant consequences (with Sequence Ontology terms), molecular mechanism with evidence, disease details with ontology terms, confidence level, and supporting publications. Use G2P_search first to find stable IDs.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse gene2phenotype genotype-phenotype clinical-genetics