WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Frasier Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease CTD_human
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		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: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 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: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. 10505699 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier 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
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS). 10571943 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. 10094551 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease UNIPROT Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Denys-Drash syndrome and Frasier syndrome are related diseases caused by mutations in the WT1 gene. 10763762 2000
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE A splice mutation in intron 9 of the WT1 gene was recently described in patients with FS. 11954756 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS). 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 12199335 2003
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		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: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964. 15973330 2005
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease LHGDN WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. 16909243 2006
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. 17935232 2007
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells. 18271004 2008
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Frasier syndrome: four new cases with unusual presentations. 23295293 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease BEFREE Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. 23295293 2012