OMIM
OMIM (Online Mendelian Inheritance in Man) is a continuously updated, expert-curated catalog of human genes and genetic disorders, focusing on genotype–phenotype relationships and the molecular basis of disease.
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"go", "gwascatalog", "reactome", "lincs-l1000", "uberon", "wikipathways", "bindingdb", "drugbank", "sider", "bgee", "uniprot", "string", "omim", "chembl", "foodb", "civic", "gdsc", "clinicaltrialsgov", "hpa", "cl", "kegg", "metacyc", "bv-brc", "ncbitaxon", "pathophenodb", "pfam", "interpro", "protcid"], "secondary_source": ["spoke"]}, {"category": "MappingProduct", "description": "MIM to Gene and MedGen mapping data connecting genetic disorders to genes", "format": "tsv", "id": "ncbigene.mim2gene_medgen", "name": "MIM to Gene MedGen Mapping", "original_source": ["ncbigene", "medgen", "omim"], "product_file_size": 954971, "product_url": "https://ftp.ncbi.nih.gov/gene/DATA/mim2gene_medgen"}, {"category": "GraphProduct", "description": "Cleaned benchmark graph (PharmKG-8k) with typed relations between genes, chemicals, and diseases", "edge_count": 500958, "id": "pharmkg.graph", "name": "PharmKG graph", "node_count": 7603, "original_source": ["omim", "drugbank", "pharmgkb", "ttd", "sider", 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disease databases", "format": "http", "id": "genecards.disease.associations", "name": "GeneCards Disease Associations", "original_source": ["omim", "malacards", "clinvar", "orphanet", "disgenet"], "product_url": "https://www.genecards.org/", "warnings": ["File was not able to be retrieved when checked on 2025-12-04_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2025-12-04_ HTTP 403 error when accessing file", "File was not able to be retrieved when checked on 2025-12-05: HTTP 403 error when accessing file"]}], "publications": [{"id": "https://doi.org/10.1093/nar/gky1151", "journal": "Nucleic Acids Research", "preferred": true, "title": "OMIM.org\u2014leveraging knowledge across phenotype\u2013gene relationships", "year": "2019"}, {"id": "https://doi.org/10.1093/nar/gku1205", "journal": "Nucleic Acids Research", "title": "OMIM.org\u2014an online catalog of human genes and genetic disorders", "year": "2015"}], "warnings": ["OMIM data are for research and educational use. Redistribution and commercial use require a license from Johns Hopkins University; API access requires registration and an API key."]}