WT1, WT1 transcription factor, 7490

N. diseases: 20; N. variants: 38
Disease: Denys-Drash Syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 10762296 2000
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism. 10571943 1999
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 9398852 1997
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 CausalMutation disease CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992