SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 GeneticVariation phenotype BEFREE Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. 20453312 2010
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 Biomarker phenotype HPO