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 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 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 GeneticVariation disease BEFREE The Wilms tumor 1 (WT1) gene is currently in focus by pediatric nephrologists as its mutations are associated with nephrotic syndrome, especially as part of complex clinical entities like Denys-Drash or Frasier syndrome. 23618379 2013
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 Frasier syndrome: four new cases with unusual presentations. 23295293 2012
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
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 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 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 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 Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). 22763603 2013
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 CausalMutation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
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 Biomarker disease CTD_human
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 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 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 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 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
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
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 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