gene2phenotype

is a Data Source.

A curated gene-disease evidence resource linking genes, variant mechanisms, and clinical phenotypes to support rare disease interpretation.

Domains

genomics, phenotype, health

License

Warning: No license entered

Homepage

gene2phenotype

Repository

GitHub

Infores ID

Unknown

FAIRsharing ID

Unknown

Products

From this Resource
ID Name URL Category Format Description
gene2phenotype.portal Gene2Phenotype Portal gene2phenotype GraphicalInterface http Main interface for searching curated ...
gene2phenotype.api Gene2Phenotype API api ProgrammingInterface http API documentation interface for progr...
gene2phenotype.api.schema Gene2Phenotype API Schema schema ProgrammingInterface http OpenAPI schema endpoint for the Gene2...
From other Resources
ID Name URL Category Format Description
translator.gene2phenotype.graph Translator Gene2Phenotype KGX Graph 2025_12_15 GraphProduct kgx KGX graph package for Gene2Phenotype ...

Is this information incorrect or incomplete? Request an update.

Created: January 23, 2026 | Last modified: February 15, 2026