Details of Disease | DrugMAP

General Information of Disease (ID: DISYW97P)

Disease Name	Wilms tumor 5
Synonyms	WT5; Wilms tumour and radial bilateral aplasia; bilateral radial aplasia with Wilms tumor; bilateral radial aplasia with Wilms tumour; Wilms tumor and radial bilateral aplasia; Wilms tumor, susceptibility to; Wilms tumor susceptibility-5, autosomal dominant, somatic mutation; Wilms tumour susceptibility-5, autosomal dominant, somatic mutation; Wilms tumour type 5; Wilms tumor 5; Wilms tumor type 5
Definition	Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.
Disease Hierarchy	DISYBXFF: Hereditary Wilms tumor DISYW97P: Wilms tumor 5
Disease Identifiers	MONDO ID MONDO_0011112 MESH ID C536707 UMLS CUI C1832099 OMIM ID 601583 MedGen ID 316905

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POU6F2	OTNSW95F	Limited	Unknown	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.