GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
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 		0.300 GermlineCausalMutation disease ORPHANET Loss-of-function mutation in GATA4 causes anomalies of human testicular development. 21220346 2011