WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Frasier Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier Syndrome 		T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 25818337 2015
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier Syndrome 		T 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
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier Syndrome 		T 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: C0950122
Disease:
Frasier Syndrome 		T 0.700 CausalMutation CLINVAR Frasier syndrome: four new cases with unusual presentations. 23295293 2012
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier 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: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950122
Disease:
Frasier Syndrome 		T 0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992