EnsemblPheno Get By Gene

Get phenotype associations for a gene from the Ensembl REST API. Returns diseases, traits, and clinical conditions linked to the gene, aggregated from multiple sources including Cancer Gene Census, OMIM, ClinVar, NHGRI-EBI GWAS catalog, and Orphanet. Each entry includes the phenotype description, data source, genomic location, and ontology accessions (EFO, HP, Orphanet). Example: BRCA1 returns 162 phenotype associations across multiple cancer types and other conditions.