omim

is a Data Source.

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.

Domains

biomedical, clinical, genomics

Homepage

omim

Repository

Unknown

Infores ID

infores:omim

FAIRsharing ID

Unknown

Product Summary

Products

From this Resource
ID Name URL Category Format Description
omim.web OMIM Website www.omim.org GraphicalInterface http Web interface for browsing and search...
omim.api OMIM API api ProgrammingInterface http REST-based API for programmatic acces...
omim.mim2gene OMIM mim2gene.txt mim2gene.txt (951.6 KB) MappingProduct tsv Public mapping of MIM numbers to NCBI...
From other Resources
ID Name URL Category Format Description
spoke.graph SPOKE Graph GraphProduct The SPOKE knowledge graph containing ...
ncbigene.mim2gene_medgen MIM to Gene MedGen Mapping mim2gene_medgen (932.6 KB) MappingProduct tsv MIM to Gene and MedGen mapping data c...
pharmkg.graph PharmKG graph 4077338 GraphProduct Cleaned benchmark graph (PharmKG-8k) ...
genecards.gene.annotations GeneCards Gene Annotations www.genecards.org Product http Integrated gene annotation data aggre...
genecards.disease.associations GeneCards Disease Associations www.genecards.org Product http Disease association data integrated f...
unibiomap.links UniBioMap Graph Links unibiomap.links.csv (1.3 GB) GraphProduct csv Core UniBioMap graph edges file.
unibiomap.auxs UniBioMap Graph Auxiliaries unibiomap.auxs.tsv (563.9 MB) GraphProduct tsv Auxiliary UniBioMap graph annotations...
unibiomap.pred UniBioMap Predicted Graph unibiomap.pred.csv (2.3 GB) GraphProduct csv Predicted UniBioMap graph edges with ...
unibiomap.pred.full UniBioMap Predicted Graph (Full) unibiomap.pred.full.csv (5.9 GB) GraphProduct csv Full unfiltered UniBioMap predicted g...
string.protein.links STRING Protein Links protein.links.v12.0.txt.gz (128.7 GB) GraphProduct txt protein network data (full network, s...
string.protein.links.detailed STRING Protein Links Detailed protein.links.detailed.v12.0.txt.gz (189.6 GB) GraphProduct txt protein network data (full network, i...
string.protein.links.full STRING Protein Links Full protein.links.full.v12.0.txt.gz (199.6 GB) GraphProduct txt protein network data (full network, i...
string.protein.physical.links STRING Protein Physical Links protein.physical.links.v12.0.txt.gz (11.1 GB) GraphProduct txt protein network data (physical subnet...
string.protein.physical.links.detailed STRING Protein Physical Links Detailed protein.physical.links.detailed.v12.0.txt.gz (13.8 GB) GraphProduct txt protein network data (physical subnet...
string.protein.physical.links.full STRING Protein Physical Links Full protein.physical.links.full.v12.0.txt.gz (14.5 GB) GraphProduct txt protein network data (physical subnet...
string.cog.links STRING COG Links COG.links.v12.0.txt.gz (176.8 MB) GraphProduct txt association scores between orthologou...
string.cog.links.detailed STRING COG Links Detailed COG.links.detailed.v12.0.txt.gz (238.7 MB) GraphProduct txt association scores (incl. subscores p...
string.database STRING Database Network Schema network_schema.v12.0.sql.gz (262.2 GB) GraphProduct full database, part II: the networks ...
medgen.hpo-omim-mapping MedGen HPO OMIM Mapping MedGen_HPO_OMIM_Mapping.txt.gz (3.9 MB) MappingProduct txt Combined mappings between MedGen, HPO...
obo-db-ingest.omim.ps.tsv omim.ps Nodes TSV omim.ps.tsv (9.3 KB) Product tsv omim.ps Nodes TSV

Details

OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive, expert-curated knowledgebase of human genes and genetic phenotypes with a focus on genotype–phenotype relationships. Access is provided via the public website and a REST API (registration required). Most bulk download files require registration; the mim2gene.txt mapping is publicly available. Please cite OMIM and relevant literature when using the resource.

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Created: June 04, 2025 | Last modified: February 20, 2026