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 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 Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). 22815844 2012
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 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 25818337 2015
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 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 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 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 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 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 CausalMutation disease CLINVAR Frasier syndrome: four new cases with unusual presentations. 23295293 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 GeneticVariation disease BEFREE Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T. 22908070 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype associations in WT1 glomerulopathy. 24402088 2014
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 GermlineCausalMutation disease ORPHANET Gonadal tumor in Frasier syndrome: a review and classification. 25623218 2015
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 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 GeneticVariation disease BEFREE Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. 12199335 2003