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History of rare diseases and their genetic causes - a data driven approach
[article]
2019
bioRxiv
pre-print
AbstractThis dataset provides information about monogenic, rare diseases with a known genetic cause supplemented with manually extracted provenance of both the disease and the discovery of the underlying genetic cause of the disease.We collected 4166 rare monogenic diseases according to their OMIM identifier, linked them to 3163 causative genes which are annotated with Ensembl identifiers and HGNC symbols. The PubMed identifier of the scientific publication, which for the first time describes
doi:10.1101/595819
fatcat:zvd3s77ltjh7nbyi2ntgjhwyr4