WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE All described patients presented with similar neuroimaging features including thin corpus callosum, mild to moderate cerebellar atrophy and diffuse periventricular and profound hypomyelinating leukodystrophy involving supratentorial white matter with classical compromise linked to inherited non-somatic WT1 gene mutations in a similar pattern to Denys-Drash syndrome, including nephrotic syndrome with different glomerular disease, chronic renal failure, intersex disorder with ambiguous genitalia, and early occurrence of specific tumors, such as Wilms' tumor and gonadoblastoma. 29801916 2018
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. 29320783 2017
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype associations in WT1 glomerulopathy. 24402088 2014
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE In this report, we describe a family with the well-known missense mutation in exon 9 of the WT1 gene, 1180C>T (R394W), causing incomplete DDS and no symptoms in their father. 23715653 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). 22763603 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). 21614510 2012
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE This report describes a novel WT1 gene mutation in a DDS patient. 20562648 2010
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease MGD A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. 19797313 2010
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene.CDH in DDS is rare. 18203154 2008
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease MGD Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). 18040647 2008
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. 17935232 2007
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease MGD Gonadal effects of a mouse Denys-Drash syndrome mutation. 16245160 2005
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease MGD The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. 15509792 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 CausalMutation disease CLINVAR Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 15150775 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE The decision to do prophylactic nephrectomies was based on the genetic identification of WT1 mutations supporting a diagnosis of incomplete DDS, with the potential for increased risk of malignancy with the development of Wilms' tumour. 14671061 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE Constitutional missense mutations in the WT1 gene are usually associated with the Denys-Drash syndrome, characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. 14745636 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease UNIPROT A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. 15349765 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease LHGDN A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. 12161615 2002
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease BEFREE Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. 11322369 2001
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 Biomarker disease BEFREE Mutant WT1 proteins in Denys-Drash syndrome patients were unable to activate this promoter. 11278460 2001
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
1.000 GeneticVariation disease UNIPROT Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome. 11519891 2001