Gene-RD-Provenance_V1.txt (482.28 kB)
Gene-RD-Provenance_V1
dataset
posted on 2019-02-14, 10:56 authored by Friederike EhrhartFriederike Ehrhart, Egon WillighagenEgon WillighagenIn 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).