Gene-RD-Provenance_V2.txt (536.29 kB)
Gene-RD-Provenance_V2
dataset
posted on 2019-02-14, 10:56 authored by Friederike EhrhartFriederike Ehrhart, Egon WillighagenEgon WillighagenIn this dataset we provide the second version of 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).