SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: 46,XY partial gonadal dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.310 GeneticVariation disease BEFREE However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. 21340164 2010
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.310 GermlineCausalMutation disease ORPHANET Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. 17493621 2007