Gene-RD-provenance_CTL_linkset

In this dataset provides a CyTargetlinker (a Cytoscape app) compatible linkset to link 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).

本数据集提供了兼容CyTargetlinker（一款Cytoscape应用程序）的关联集，可将带有明确遗传病因的单基因罕见疾病（以OMIM标识符标注）与对应的致病基因（以HGNC、Ensembl标注）进行关联，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溯源文献信息（以PMID标注）。