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
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: rs1423753702
rs1423753702
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0027708
Disease:
Nephroblastoma
0.710 GeneticVariation BEFREE We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. 19048299 2009
dbSNP: rs1423753702
rs1423753702
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0027708
Disease:
Nephroblastoma
A 0.710 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: rs121907900
rs121907900
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0950121
Disease:
Denys-Drash Syndrome
A 0.710 CausalMutation CLINVAR
dbSNP: rs3809060
rs3809060
Entrez Id: 7490;51352
Gene Symbol: WT1;WT1-AS
WT1;WT1-AS
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs5030179
rs5030179
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs5030317
rs5030317
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0005612
Disease:
Birth Weight
C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs7110547
rs7110547
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4986811
rs4986811
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C3897558
Disease:
Soluble Interleukin 6 Receptor Measurement
G 0.700 GeneticVariation GWASCAT Polymorphisms in the Wilms Tumor Gene Are Associated With Interindividual Variations in Rubella Virus-Specific Cellular Immunity After Measles-Mumps-Rubella II Vaccination. 29253144 2018
dbSNP: rs2234584
rs2234584
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0027708
Disease:
Nephroblastoma
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
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: 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: rs2234584
rs2234584
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0027708
Disease:
Nephroblastoma
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs3809060
rs3809060
Entrez Id: 7490;51352
Gene Symbol: WT1;WT1-AS
WT1;WT1-AS
CUI: C0019294
Disease:
Hernia, Inguinal
G 0.700 GeneticVariation GWASCAT A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. 26686553 2015
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: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR Relapse assessment following allogeneic SCT in patients with MDS and AML. 24671364 2014
dbSNP: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR WT1 vaccination in acute myeloid leukemia: new methods of implementing adoptive immunotherapy. 24521058 2014
dbSNP: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR Wilms' Tumour 1 (WT1) peptide vaccination in patients with acute myeloid leukaemia induces short-lived WT1-specific immune responses. 24422723 2014
dbSNP: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR Overexpression of Wilms tumor 1 gene as a negative prognostic indicator in acute myeloid leukemia. 24667279 2014
dbSNP: rs1057519745
rs1057519745
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CACCGTACA 0.700 GeneticVariation CLINVAR WT1 overexpression affecting clinical outcome in non-hodgkin lymphomas and adult acute lymphoblastic leukemia. 24374862 2014
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: rs121907909
rs121907909
Entrez Id: 7490
Gene Symbol: WT1
WT1
CUI: C0027708
Disease:
Nephroblastoma
A 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: C0206115
Disease:
WAGR Syndrome
A 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 Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013