Gene-RD-Provenance_V1

2019-02-14T10:56:39Z (GMT) by Friederike Ehrhart Egon Willighagen

In this dataset we provide monogenic, rare diseases (OMIM identifier) with a known genetic cause (HGNC, Ensembl) supplemented with manually extracted provenance of both the disease and the discovery of the underlying genetic cause of the disease (PMID).