Gene-Rare Disease-Provenance linksets

The Gene-Rare Disease-Provenance Linksets
This dataset provides a CyTargetlinker compatible linkset to link monogenic, rare diseases (annotated with their OMIM identifier) with a known genetic cause (annotated with their HGNC, Ensembl identifiers) supplemented with manually extracted provenance of both the disease and the discovery of the underlying genetic cause of the disease (PMID).

Citation: Ehrhart F, Willighagen EL, Kutmon M, van Hoften M, Curfs LMG, Evelo CT. A resource to explore the discovery of rare diseases and their causative genes. Sci Data. 2021 May 4;8(1):124. doi: 10.1038/s41597-021-00905-y. PMID: 33947870; PMCID: PMC8096966.

Gene-Rare Disease-Provenance linkset Version 2

The database content was retrieved through the SPARQL endpoint. Don’t forget to first unzip all link set files that you want to use and put them in the same folder.

Linkset Date Linkset version Species Supported identifiers
Gene-RD-Prov_v2.xgmml 2020-06-05 Gene-RD-provenance_v2 Homo sapiens (hsa) OMIM, Ensembl, HGNC, PMID