WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Denys-Drash Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907900
rs121907900
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		0.710 GeneticVariation BEFREE WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. 29320783 2017
dbSNP: rs121907900
rs121907900
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1564969626
rs1564969626
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		G 0.700 GeneticVariation CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786 2016
dbSNP: rs121907909
rs121907909
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
dbSNP: rs121907909
rs121907909
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196 2011
dbSNP: rs1554939839
rs1554939839
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		C 0.700 CausalMutation CLINVAR Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 15150775 2004
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 10762296 2000
dbSNP: rs121907909
rs121907909
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 9499425 1998
dbSNP: rs121907909
rs121907909
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 9108089 1997
dbSNP: rs1423753702
rs1423753702
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 9108089 1997
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 9398852 1997
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
dbSNP: rs1060501253
rs1060501253
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121907901
rs121907901
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121907902
rs121907902
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121907903
rs121907903
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121907904
rs121907904
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121907905
rs121907905
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121907906
rs121907906
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121907907
rs121907907
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554945232
rs1554945232
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1554946500
rs1554946500
Entrez Id: 7490;51352
Gene Symbol: WT1;WT1-AS
WT1;WT1-AS
CUI: C0950121
Disease:
Denys-Drash Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554946600
rs1554946600
Entrez Id: 7490;51352
Gene Symbol: WT1;WT1-AS
WT1;WT1-AS
CUI: C0950121
Disease:
Denys-Drash Syndrome 		T 0.700 CausalMutation CLINVAR