WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: WAGR Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE All tested patients did not have WT1 gene deletions thus excluding the WAGR syndrome. 26849621 2016
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 ChromosomalRearrangement disease ORPHANET The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. 23266638 2013
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. 21567907 2011
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE This segmental loss included the PAX6 and WT1 genes within the WAGR syndrome critical region. 20186791 2010
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease 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: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity. 15742368 2005
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE The two deletions included the PAX6 and WT1 genes as previously reported in typical WAGR patients. 15779023 2005
CUI: C0206115
Disease: WAGR Syndrome
WAGR 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: C0206115
Disease: WAGR Syndrome
WAGR 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: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Gene 239FB, transcribed extensively in fetal brain, was isolated from the chromosome 11p13 region associated with mental retardation component of the WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) syndrome. 9266672 1997
CUI: C0206115
Disease: WAGR Syndrome
WAGR 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: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient. 7833922 1994
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease 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: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 AlteredExpression disease BEFREE Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. 8396067 1993
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. 1331933 1992
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Inactivation of the remaining allele of the WT1 gene in a Wilms' tumour from a WAGR patient. 1314370 1992
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearrangements with pulsed field gel (PFG) analysis using probes deleted from one chromosome 11 homolog of a WAGR patient. 2852160 1988
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease CTD_human