Gene-Rare Disease-Provenance dataset collection

Published on 2020-03-06T11:14:25Z (GMT) by Friederike Ehrhart
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).

Cite this collection

Ehrhart, Friederike; Willighagen, Egon; Kutmon, Martina (2019): Gene-Rare Disease-Provenance dataset collection. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4400798.v2