Disease: 46, XX Testicular Disorders of Sex Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GeneticVariation disease BEFREE A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 30739115 2019
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GermlineCausalMutation disease ORPHANET NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 27490115 2017