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 UNIPROT Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
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 In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found. 1655284 1991
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GermlineCausalMutation disease ORPHANET In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found. 1655284 1991
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. 7607640 1995
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease BEFREE DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. 7795587 1995
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE We encountered a patient with Denys-Drash syndrome associated with WT whose WT1 gene had a homozygous point mutation not only in WT but also in renal tissue adjacent to the WT and in the germline. 7875294 1995
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 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 GeneticVariation disease UNIPROT Molecular analysis of two Japanese cases of Denys-Drash syndrome. 8295405 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 GeneticVariation disease UNIPROT Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. 8388765 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Therefore the site of the mutation in the WT-1 gene in this patient cannot exclude the possibility that he has DDS. 8393425 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Deletions of the WT1 gene or point mutations which destroy the DNA binding activity of the protein are associated with the development of the pediatric nephroblastoma Wilms tumor and Denys-Drash syndrome. 8393820 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease UNIPROT However, in addition to the 12 patients, three DDS patients were also analysed using SSCP, and in all three cases heterozygous WT1 mutations were found which would be predicted to disrupt the DNA binding activity of WT1 protein. 8411073 1993
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 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 CausalMutation disease CLINVAR Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 9108089 1997