SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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 Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 22051515 2011