G2P search

Description

Search the Gene2Phenotype (G2P) database for gene-disease associations curated by clinical geneticists. G2P is maintained by EBI and provides expert-curated evidence for gene-disease relationships used in clinical diagnosis. Returns gene-disease pairs with genotype (monoallelic/biallelic), molecular mechanism (loss/gain of function), clinical panel assignment (DD, Cancer, Skeletal, etc.), and confidence level (definitive, strong, moderate, limited). Useful for clinical variant interpretation ...

Quick Install

Installation

pip install tooluniverse

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