Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
0.310 GeneticVariation BEFREE However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. 21340164

2010

Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
0.310 GermlineCausalMutation ORPHANET Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. 17493621

2007