SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. 8894698 1996