PheWAS Catalog
The PheWAS Catalog is an aggregator of phenome-wide association studies that systematically analyzes many phenotypes compared to single genetic variants. It aggregates results from electronic medical record (EMR) data analysis, combining genetic association data from multiple biobanks and clinical databases to enable comprehensive phenotype-genotype association discovery.
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{"activity_status": "active", "category": "Aggregator", "contacts": [{"category": "Organization", "contact_details": [{"contact_type": "url", "value": "https://phewascatalog.org/phewas/#home"}, {"contact_type": "email", "value": "joshua.c.denny@vumc.org"}], "label": "Vanderbilt University Medical Center"}], "creation_date": "2025-09-24T00:00:00Z", "description": "The PheWAS Catalog is an aggregator of phenome-wide association studies that systematically analyzes many phenotypes compared to single genetic variants. It aggregates results from electronic medical record (EMR) data analysis, combining genetic association data from multiple biobanks and clinical databases to enable comprehensive phenotype-genotype association discovery.", "domains": ["biomedical", "genomics", "clinical", "precision medicine"], "homepage_url": "https://phewascatalog.org/phewas/#home", "id": "phewascat", "last_modified_date": "2025-09-24T00:00:00Z", "layout": "resource_detail", "name": "PheWAS Catalog", "products": [{"category": "GraphicalInterface", "description": "Web portal for browsing and accessing PheWAS association results and analysis tools", "format": "http", "id": "phewascat.portal", "name": "PheWAS Catalog Portal", "product_url": "https://phewascatalog.org/phewas/#home"}, {"category": "Product", "description": "PheWAS association results for SNPs from GWAS Catalog analyzed against EMR-derived phenotypes", "format": "csv", "id": "phewascat.associations", "name": "PheWAS Association Data", "product_url": "https://phewascatalog.org/phewas/#home"}, {"category": "Product", "description": "Phecode mapping files for translating ICD codes to phenotypes used in PheWAS analysis", "format": "csv", "id": "phewascat.phecodes", "name": "Phecode Maps", "product_url": "https://phewascatalog.org/phewas/#home"}, {"category": "ProgrammingInterface", "description": "R package for performing PheWAS analysis using the catalog data and methods", "format": "http", "id": "phewascat.rpackage", "name": "PheWAS R Package", "product_url": "https://www.vumc.org/cpm/center-precision-medicine-blog/phewas-r-package"}, {"category": "GraphProduct", "description": "DisGeNET data, including gene to disease associations and variant to disease associations (requires registration and subscription).", "id": "disgenet.data", "name": "DisGeNET Data", "original_source": ["clingen", "clinvar", "mgd", "rgd", "orphanet", "psygenet", "uniprot", "disgenet", "hp", "gwascatalog", "phewascat", "ukbiobank", "finngen", "clinicaltrialsgov"], "product_url": "https://www.disgenet.com/", "secondary_source": ["disgenet"]}], "publications": [{"authors": ["Denny JC", "Bastarache L", "Ritchie MD"], "id": "doi:10.1038/nbt.2749", "journal": "Nature Biotechnology", "preferred": true, "title": "Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data", "year": "2013"}], "repository": "https://github.com/nhgritctran/PheTK", "tags": ["translator"], "taxon": ["NCBITaxon:9606"]}