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 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 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 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 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 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
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 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 Biomarker disease BEFREE Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. 23295293 2012
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 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 Biomarker disease LHGDN WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. 16909243 2006