Article

History of rare diseases and their genetic causes - a data driven approach

2019-04-01

Abstract excerpt

This 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 ide...

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Literature Corpus work: ee0a1b76-fbf5-5f6b-ba08-7f298adf8819
DOI: 10.1101/595819

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