WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Denys-Drash Syndrome ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease CTD_human
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
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 GeneticVariation disease UNIPROT Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. 8741319 1996
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 BEFREE Cys388Phe is a novel mutation in the WT1 gene in the DDS. 11228042 2000
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 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 UNIPROT A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations. 10799199 2000
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease UNIPROT A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. 8956030 1997
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 UNIPROT A novel zinc finger mutation in a patient with Denys-Drash syndrome. 8111391 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. 8381368 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease MGD A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. 10077614 1999
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 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 Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing. 8112732 1994
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease UNIPROT Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing. 8112732 1994
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 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 BEFREE Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 1338906 1992
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease UNIPROT Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 1338906 1992
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease UNIPROT Constitutional WT1 correlate with clinical features in children with progressive nephropathy. 11182928 2000