WT1, WT1 transcription factor, 7490
N. diseases: 446; N. variants: 61
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. | 28204945 | 2017 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. | 25818337 | 2015 | ||||||
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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 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Genetic screening in adolescents with steroid-resistant nephrotic syndrome. | 23515051 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Genetic screening in adolescents with steroid-resistant nephrotic syndrome. | 23515051 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Frasier syndrome: four new cases with unusual presentations. | 23295293 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. | 21851196 | 2011 | ||||||
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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 | ||||||
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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 | ||||||
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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 | ||||||
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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 | ||||||
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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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. | 1302008 | 1992 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | analysis of the Wilms' tumour suppressor gene in a patient with Frasier syndrome by the polymerase chain reaction and direct sequencing detected a + 5G -->A transition at a position of the second alternative splice region of exon 9, important for predicting the risk of the occurrence of Wilms' tumour. | 11954756 | 2002 |