WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease UNIPROT Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. 15253707 2004
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease UNIPROT Constitutional WT1 correlate with clinical features in children with progressive nephropathy. 11182928 2000
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease UNIPROT Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 9529364 1998
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease UNIPROT Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. 9607189 1998
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 CausalMutation disease CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 Biomarker disease CTD_human
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 GeneticVariation disease CLINVAR
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4
0.700 Biomarker disease GENOMICS_ENGLAND