{"@type": "dcat:Dataset", "accessLevel": "public", "bureauCode": ["009:25"], "contactPoint": {"@type": "vcard:Contact", "fn": "National Library of Medicine", "hasEmail": "mailto:custserv@nlm.nih.gov"}, "description": "Supports finding human phenotype/genotype relationships with queries by phenotype, chromosome location, gene, and SNP identifiers. Currently includes information from dbGaP, the National Human Genome Research Institute (NHGRI) genome-wide association study (GWAS) Catalog, and Genotype - Tissue Expression (GTeX).", "distribution": [{"@type": "dcat:Distribution", "downloadURL": "https://www.ncbi.nlm.nih.gov/gap/phegeni", "mediaType": "text/html", "title": "Phenotype-Genotype Integrator (PheGenI) - Query Interface"}], "identifier": "https://datadiscovery.nlm.nih.gov/api/views/53jk-taha", "issued": "2021-07-01", "keyword": ["genetics", "genomics", "tools & utilities"], "landingPage": "https://www.ncbi.nlm.nih.gov/gap/phegeni", "license": "http://opendefinition.org/licenses/odc-odbl/", "modified": "2025-06-18", "programCode": ["009:041"], "publisher": {"@type": "org:Organization", "name": "National Library of Medicine"}, "theme": ["Biology"], "title": "Phenotype-Genotype Integrator (PheGenI)"}