Gene-RD-Provenance_V1

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).

本数据集提供了携带明确遗传病因的单基因罕见病，此类疾病均附有在线人类孟德尔遗传（Online Mendelian Inheritance in Man, OMIM）标识符，其已知遗传病因的相关信息由人类基因命名委员会（HUGO Gene Nomenclature Committee, HGNC）与Ensembl数据库提供；同时补充了经人工提取的该疾病及其潜在遗传病因发现过程的文献来源，该来源以PubMed编号（PubMed ID, PMID）标注。