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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation. 21660403 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE These include WAGR (for Wilms tumor, aniridia, genitourinary anomalies, and mental retardation), and Frasier and Denys-Drash syndromes. 18385267 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. 17935232 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. 16646034 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion. 15779023 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. 15702131 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. 15779010 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The remaining four had chromosomal rearrangements: an unbalanced translocation, t(11;13), with a deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) region, and three balanced rearrangements with what appear to be position effect breakpoints 3' of PAX6: (a) a t(7;11) with the 11p13 breakpoint approximately 30 kb downstream of PAX6, (b) a dir ins(12;11) with a breakpoint >50 kb from PAX6, and (c) an inv(11)(p13q13) with a breakpoint >75 kb downstream of PAX6. 12386836 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE Two eSTS markers have been further mapped with respect to a yeast artificial chromosome (YAC) contig close to the brain-derived neurotrophic factor (BDNF) gene and thus provide potential candidate genes for the mental retardation phenotype of WAGR (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) syndrome. 8717056 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The Wilms tumour (WT1) gene was first localized through its deletion in individuals with the WAGR syndrome (Wilms tumour, aniridia, genitourinary abnormalities and mental retardation). 7833922 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Patients with the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome 11 allele encompassing the WT1 gene. 7687865 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. 2539014 1989
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R). 2570677 1989
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group HPO