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: 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 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 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 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 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