Annotation Detail
Information
- Associated Genes
- WT1
- Associated Variants
-
WT1 MUTATION
WT1 MUTATION - Associated Disease
- Denys-Drash syndrome
- Source Database
- DisGeNET
- Description
- Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal and gonadal cancer.
- Pubmed
- 25613702
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.572691754639318
Drugs