SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
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) 		0.030 GeneticVariation disease BEFREE Most of these familial mutations are localized within the HMG box and only two are at the N-terminal domain of the SRY protein. 17063144 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE We have identified a familial mutation in the SRY gene involving a previously described locus. 12793612 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. 8834258 1996