Gene-RD-Prov_v2.xgmml (5.74 MB)
Gene-RD-provenance_CTL_linkset
dataset
posted on 2020-03-06, 11:20 authored by Friederike EhrhartFriederike Ehrhart, Martina KutmonMartina Kutmon, Egon WillighagenEgon WillighagenIn this dataset provides a CyTargetlinker (a Cytoscape app) compatible linkset to link 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).