Gene-RD-Provenance_V2.txt (536.29 kB)

Gene-RD-Provenance_V2

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dataset
posted on 14.02.2019 by Friederike Ehrhart, Egon Willighagen
In 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).

Funding

This work was funded by ELIXIR, the European infrastructure project for life sciences (MolData2) and EJP-RD.

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