SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.130 Biomarker disease BEFREE Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism. 31055572 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.130 GeneticVariation disease BEFREE The father of the three children presented with hypospadias; cryptorchidism; testicular seminoma and oligoasthenozoospermia, an association termed testicular dysgenesis syndrome (TDS); and the SRY mutation in a mosaic state in the peripheral blood and the tumor. 19531589 2009
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.130 Biomarker disease BEFREE SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature. 12890966 2003
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.130 Biomarker disease HPO