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.
biomedical, clinical, genomics
Unknown
infores:omim
Unknown
| 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... |
| 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... |