%0 Generic %A Ehrhart, Friederike %A Willighagen, Egon %D 2019 %T Gene-RD-Provenance_V1 %U https://figshare.com/articles/dataset/Gene-RD-Provenance_V1/7718492 %R 10.6084/m9.figshare.7718492.v1 %2 https://ndownloader.figshare.com/files/14367470 %K Rare Diseases %K Diseases %K Medical Genetics (excl. Cancer Genetics) %K Quantitative Genetics (incl. Disease and Trait Mapping Genetics) %K Genetics %K Neurogenetics %K Bioinformatics %K Computational Biology %X

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).

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