Gene-RD-Provenance_V2.1.txt

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).

本数据集提供了携带已知遗传病因的单基因罕见病的第二版数据集，此类疾病均标注有OMIM标识符，其对应的遗传病因信息已通过HGNC与Ensembl数据库完成验证，并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来源文献（PMID）。