is a Data Source.
A curated gene-disease evidence resource linking genes, variant mechanisms, and clinical phenotypes to support rare disease interpretation.
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infores:gene2phenotype
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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 | Relation | Description |
|---|---|---|---|---|---|---|
| translator.gene2phenotype.graph | Translator Gene2Phenotype KGX Graph | latest | GraphProduct | kgx-jsonl | had primary source | KGX JSONL graph package for Gene2Phen... |
| translator.translator_kg.graph | Translator Aggregate KGX Graph | latest | GraphProduct | kgx-jsonl | had primary source | Aggregated KGX JSONL graph package co... |
| kg-ebi-gene2pheno.nodes.kgx | EBI gene2pheno KGX nodes | EBIgene2pheno_kgx_nodes.jsonl (60.7 KB) | GraphProduct | kgx-jsonl | had primary source | KGX nodes file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.kgx | EBI gene2pheno KGX edges | EBIgene2pheno_kgx_edges.jsonl (130.0 KB) | GraphProduct | kgx-jsonl | had primary source | KGX edges file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.trapi | EBI gene2pheno TRAPI edges | EBIgene2pheno_trapi_edges.jsonl (138.7 KB) | GraphProduct | trapi-jsonl | had primary source | TRAPI edges file for EBI Gene2Phenoty... |
Gene2Phenotype is a curated resource linking genes, variant consequences, molecular mechanisms, and diseases to support rare disease interpretation.
Created: January 23, 2026 | Last modified: June 18, 2026