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Phenotype-Genotype Integrator (PheGenI)
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).
Complete Metadata
| @type | dcat:Dataset |
|---|---|
| accessLevel | public |
| bureauCode |
[
"009:25"
]
|
| contactPoint |
{
"fn": "National Library of Medicine",
"@type": "vcard:Contact",
"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",
"title": "Phenotype-Genotype Integrator (PheGenI) - Query Interface",
"mediaType": "text/html",
"downloadURL": "https://www.ncbi.nlm.nih.gov/gap/phegeni"
}
]
|
| 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 |
{
"name": "National Library of Medicine",
"@type": "org:Organization"
}
|
| theme |
[
"Biology"
]
|
| title | Phenotype-Genotype Integrator (PheGenI) |