is a Data Source.
A curated gene-disease evidence resource linking genes, variant mechanisms, and clinical phenotypes to support rare disease interpretation.
genomics, phenotype, health
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| 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... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| translator.gene2phenotype.graph | Translator Gene2Phenotype KGX Graph | latest | GraphProduct | kgx-jsonl | KGX JSONL graph package for Gene2Phen... |
| translator.translator_kg.graph | Translator Aggregate KGX Graph | latest | GraphProduct | kgx-jsonl | Aggregated KGX JSONL graph package co... |
Gene2Phenotype is a curated resource linking genes, variant consequences, molecular mechanisms, and diseases to support rare disease interpretation.
Created: January 23, 2026 | Last modified: February 15, 2026