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: C0004509
Disease: Azoospermia
Azoospermia
0.120 GeneticVariation disease BEFREE Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10). 30466086 2018
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.120 Biomarker disease BEFREE Semen analysis showed azoospermia.Chromosome analysis revealed a 46,XX karyotype; molecular and cytogenetic analyses excluded the presence of SRY (the sex-determining region of the Y chromosome) gene. 15652914 2005
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.120 Biomarker disease HPO