Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
0.010 Biomarker disease BEFREE <i>RNF216</i>, encoding an E3 ubiquitin ligase, has been identified as a causative gene for Gordon Holmes syndrome, characterized by ataxia, dementia, and hypogonadotropic hypogonadism. 30733708 2019