WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Gonadal Dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 GeneticVariation disease BEFREE A heterozygous mutation in WT1 gene and a hemizygous mutation in SRY gene were detected in patients with gonadal dysgenesis. 27898418 2017
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 GeneticVariation disease BEFREE In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. 15665984 2005
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 GeneticVariation disease BEFREE Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 12199335 2003
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 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: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 GeneticVariation disease BEFREE An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. 12050205 2002
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 GeneticVariation disease BEFREE Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. 7607640 1995
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.160 Biomarker disease HPO