SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Nephroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 GeneticVariation disease BEFREE In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. 15665984 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 GeneticVariation disease BEFREE The Wilms' tumor 1 (WT1) and sex-determining region of the Y chromosome (SRY) genes are essential for development of the mammalian gonads and mutations in these genes are associated with gonadal dysgenesis in humans. 12970737 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 Biomarker disease BEFREE The Wilms' tumor gene WT1 can regulate genes involved in sex determination and differentiation: SRY, Müllerian-inhibiting substance, and the androgen receptor. 9815658 1997
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 Biomarker disease BEFREE Preliminary results on the Wilms' tumor suppressor gene WT1, a candidate for acting downstream to SRY, are also provided. 1478624 1992
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 Biomarker disease HPO