rs587776576, WT1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 25818337 2015
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
WAGR Syndrome
CUI: C0206115
Disease: WAGR Syndrome
0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Frasier syndrome: four new cases with unusual presentations. 23295293 2012
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 20442690 2010
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
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
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
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
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
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
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
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
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
0.700 CausalMutation CLINVAR Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 9398852 1997
Steroid-resistant nephrotic syndrome
0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
NEPHROTIC SYNDROME, TYPE 4
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
Frasier Syndrome
CUI: C0950122
Disease: Frasier Syndrome
0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992