WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE ×
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: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		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: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 20442690 2010
dbSNP: rs587776576
rs587776576
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		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: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
dbSNP: rs869025561
rs869025561
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR