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.
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infores:omim
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| omim.web | OMIM Website | www.omim.org | Graphical Interface | http | Web interface for browsing and search... |
| omim.api | OMIM API | api | Programming Interface | http | REST-based API for programmatic acces... |
| omim.mim2gene | OMIM mim2gene.txt | mim2gene.txt (951.6 KB) | Mapping | tsv | Public mapping of MIM numbers to NCBI... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| spoke.graph | SPOKE Graph | data-tools | Graph | http | had primary source | The SPOKE knowledge graph containing ... |
| ncbigene.mim2gene_medgen | MIM to Gene MedGen Mapping | mim2gene_medgen (932.6 KB) | Mapping | tsv | had primary source | MIM to Gene and MedGen mapping data c... |
| pharmkg.graph | PharmKG graph | 4077338 | Graph | mixed | had primary source | Cleaned benchmark graph (PharmKG-8k) ... |
| genecards.gene.annotations ⚠ | GeneCards Gene Annotations | www.genecards.org | Product | http | had primary source | Integrated gene annotation data aggre... |
| genecards.disease.associations ⚠ | GeneCards Disease Associations | www.genecards.org | Product | http | had primary source | Disease association data integrated f... |
| unibiomap.links | UniBioMap Graph Links | unibiomap.links.csv (1.3 GB) | Graph | csv | had primary source | Core UniBioMap graph edges file. |
| unibiomap.auxs | UniBioMap Graph Auxiliaries | unibiomap.auxs.tsv (563.9 MB) | Graph | tsv | had primary source | Auxiliary UniBioMap graph annotations... |
| unibiomap.pred | UniBioMap Predicted Graph | unibiomap.pred.csv (2.3 GB) | Graph | csv | had primary source | Predicted UniBioMap graph edges with ... |
| unibiomap.pred.full | UniBioMap Predicted Graph (Full) | unibiomap.pred.full.csv (5.9 GB) | Graph | csv | had primary source | Full unfiltered UniBioMap predicted g... |
| string.protein.links | STRING Protein Links | protein.links.v12.0.txt.gz (128.7 GB) | Graph | txt | had primary source | protein network data (full network, s... |
| string.protein.links.detailed | STRING Protein Links Detailed | protein.links.detailed.v12.0.txt.gz (189.6 GB) | Graph | txt | had primary source | protein network data (full network, i... |
| string.protein.links.full | STRING Protein Links Full | protein.links.full.v12.0.txt.gz (199.6 GB) | Graph | txt | had primary source | protein network data (full network, i... |
| string.protein.physical.links | STRING Protein Physical Links | protein.physical.links.v12.0.txt.gz (11.1 GB) | Graph | txt | had primary source | 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) | Graph | txt | had primary source | 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) | Graph | txt | had primary source | protein network data (physical subnet... |
| string.cog.links | STRING COG Links | COG.links.v12.0.txt.gz (176.8 MB) | Graph | txt | had primary source | association scores between orthologou... |
| string.cog.links.detailed | STRING COG Links Detailed | COG.links.detailed.v12.0.txt.gz (238.7 MB) | Graph | txt | had primary source | association scores (incl. subscores p... |
| string.database | STRING Database Network Schema | network_schema.v12.0.sql.gz (262.2 GB) | Graph | postgres | had primary source | full database, part II: the networks ... |
| medgen.hpo-omim-mapping | MedGen HPO OMIM Mapping | MedGen_HPO_OMIM_Mapping.txt.gz (3.9 MB) | Mapping | txt | had primary source | Combined mappings between MedGen, HPO... |
| obo-db-ingest.omim.ps.tsv | omim.ps Nodes TSV | omim.ps.tsv (9.3 KB) | Product | tsv | had primary source | omim.ps Nodes TSV |
| raras.portal | Raras Portal | raras.org | Graphical Interface | http | was informed by | Main Raras portal for searching rare ... |
| raras.encyclopedia | Raras Encyclopedia | explorar | Graphical Interface | http | was informed by | Rare disease encyclopedia for browsin... |
| medkg.site | MedKG Site | medkg | Graphical Interface | http | had primary source | Graphical interface for MedKG |
| rdkg.tpf | RDKG TPF | rdkg | Programming Interface | http | had primary source | Triple Pattern Fragments endpoint for... |
| pharmebinet.json | PharMeBINet JSON Release | content (1.8 GB) | Graph | json | was derived from | PharMeBINet V2 JSON release published... |
| pharmebinet.tsv | PharMeBINet TSV Release | content (1.8 GB) | Graph | tsv | was derived from | PharMeBINet V2 TSV release published ... |
| pharmebinet.graphml | PharMeBINet GraphML Release | content (1.9 GB) | Graph | mixed | was derived from | PharMeBINet V2 GraphML release publis... |
| pharmebinet.neo4j | PharMeBINet Neo4j Database | content (3.6 GB) | Graph | neo4j | was derived from | PharMeBINet V2 Neo4j database release... |
| pharmebinet.neo4j.dump | PharMeBINet Neo4j Dump | content (3.4 GB) | Graph | neo4j | was derived from | PharMeBINet V2 Neo4j dump release pub... |
| tcrd.database_download ⚠ | TCRD Database Downloads | TCRD | Product | mysql | was influenced by | MySQL database dump files containing ... |
| tcrd.api | Pharos API | api | Programming Interface | http | was influenced by | RESTful API providing programmatic ac... |
| tcrd.documentation ⚠ | TCRD Documentation | TCRD | Documentation | http | was influenced by | Comprehensive documentation describin... |
| eram.web | eRAM Web Interface | eram | Graphical Interface | http | was informed by | Web-based interface for browsing and ... |
| eram.downloads | eRAM Data Downloads | download.php | Product | mixed | was derived from | Downloadable data files containing ra... |
| kg-predict.gpkg | GP-KG Knowledge Graph Data | GP_KG.txt (46.2 MB) | Graph | tsv | was derived from | GP-KG tab-delimited knowledge graph c... |
| markerdb.api | MarkerDB API | markerdb_api | Programming Interface | http | was informed by | MarkerDB API documentation and endpoi... |
| markerdb.sequence_variants.tsv | MarkerDB Genetic Biomarkers TSV | download_all_sequence_variants?format=tsv | Product | tsv | was informed by | TSV export of MarkerDB genetic biomar... |
| openpredict.api | OpenPredict API | docs | Programming Interface | http | used | TRAPI 1.4 API for predicted drug trea... |
| openpredict.predictions ⚠ | OpenPredict Prediction Data | docs | Product | mixed | used | Pre-computed prediction outputs expos... |
| orphanet.scientific_knowledge_files | Orphanet Scientific Knowledge Files | orphanet-scientific-knowledge-files | Product | xml | was informed by | Orphanet scientific knowledge files f... |
| harmonizome.downloads | Harmonizome Downloads | download | Product | mixed | was derived from | Harmonizome 3.0 processed dataset dow... |
| harmonizome.kg-neo4j | Harmonizome Knowledge Graph Neo4j Database | harmonizome-kg.maayanlab.cloud | Graph | neo4j | was derived from | Neo4j knowledge graph serialization o... |
| predict.method | PREDICT Drug-Indication Inference Method | msb.2011.26 | Process | http | used | PREDICT computational method for larg... |
| predict.supporting-information | PREDICT Supporting Information | PMC3159979 | Product | mixed | used | Supporting information for the PREDIC... |
| genecards.web.interface | GeneCards Web Interface | www.genecards.org | Graphical Interface | http | had primary source | Web-based interface for searching and... |
| redrugs.source | ReDrugs Source Code | redrugs | Product | python | had primary source | ReDrugS source code (TurboGears/SADI ... |
| gp-kg.graph | GP-KG | GP_KG.txt (46.2 MB) | Graph | txt | was derived from | GP_KG.txt |
| kg-ebi-gene2pheno.nodes.kgx | EBI gene2pheno KGX nodes | EBIgene2pheno_kgx_nodes.jsonl (60.7 KB) | Graph | kgx-jsonl | was derived from | KGX nodes file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.kgx | EBI gene2pheno KGX edges | EBIgene2pheno_kgx_edges.jsonl (130.0 KB) | Graph | kgx-jsonl | was derived from | KGX edges file for EBI Gene2Phenotype KG |
| kg-ebi-gene2pheno.edges.trapi | EBI gene2pheno TRAPI edges | EBIgene2pheno_trapi_edges.jsonl (138.7 KB) | Graph | trapi-jsonl | was derived from | TRAPI edges file for EBI Gene2Phenoty... |
| kg-idg.graph ⚠ | KGX Distribution of KG-IDG | kg-idg.tar.gz | Graph | kgx | had primary source | KGX Distribution of KG-IDG |
| pharmdb.graph | PharmDB-K Graph | ❔ | Graph | http | had primary source | Integrated pharmacological knowledge ... |
| primekg.graph ⚠ | PrimeKG Full Dataset | 6180620 | Graph | csv | had primary source | The full PrimeKG dataset containing d... |
| rdbridge.graph | RDBridge Knowledge Graph | ❔ | Graph | ❔ | had primary source | Knowledge graph connecting rare disea... |
| sri-reference-kg.graph | SRI-Reference KG (KGX distribution) | monarch-kg.tar.gz (219.4 MB) | Graph | kgx | had primary source | KGX distribution of the SRI-Reference KG |
| unibiomap.disease_desc ⚠ | UniBioMap Disease Descriptions | disease_desc.json | Graph | json | had primary source | UniBioMap disease entity descriptions. |
| spoke-okn.graph | SPOKE-OKN Graph | spoke.ucsf.edu | Graph | ttl | was influenced by | The SPOKE-OKN knowledge graph, an OKN... |
| pubchem.substances.asn | PubChem Substances ASN | ASN | Product | xml | was influenced by | PubChem substance information in ASN.... |
| pubchem.substances.sdf | PubChem Substances SDF | SDF | Product | sdf | was influenced by | PubChem substance information in SDF ... |
| ctd.chemicals_diseases | CTD Chemical-Disease Associations | CTD_chemicals_diseases.tsv.gz (154.4 MB) | Product | tsv | was derived from | Chemical-disease associations, both c... |
| ctd.genes_diseases | CTD Gene-Disease Associations | CTD_genes_diseases.tsv.gz (3.0 GB) | Product | tsv | was derived from | Gene-disease associations, both curat... |
| ctd.medic | CTD Disease Vocabulary (MEDIC) | CTD_diseases.obo.gz (1.4 MB) | Ontology | obo | was derived from | MEDIC, CTD's disease vocabulary, a mo... |
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.
Created: June 04, 2025 | Last modified: September 23, 2026