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 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: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GermlineCausalMutation disease ORPHANET Gonadal tumor in Frasier syndrome: a review and classification. 25623218 2015
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder) 		0.700 GermlineCausalMutation disease ORPHANET WT1 in disease: shifting the epithelial-mesenchymal balance. 21959952 2012
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder) 		0.700 GermlineCausalMutation disease ORPHANET WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 17853480 2007
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation disease ORPHANET A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. 20150449 2010
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		0.600 FusionGene disease ORPHANET
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 GenomicAlterations disease CGI
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		0.600 GenomicAlterations disease CGI
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 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 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 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 CausalMutation disease CLINVAR Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 9499425 1998
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 10762296 2000
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 9398852 1997
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism. 10571943 1999
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
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 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: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 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
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 CausalMutation disease CGI
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.800 CausalMutation disease CLINVAR Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999