Details of Disease

General Information of Disease (ID: DISF2O2O)

Disease Name Cowden syndrome 4
Synonyms CWS4; KLLN Cowden disease; Cowden syndrome type 4; Cowden disease caused by mutation in KLLN; Cowden syndrome 4
Definition Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.
Disease Hierarchy
DISMYKCE: Cowden disease
DISF2O2O: Cowden syndrome 4
Disease Identifiers
MONDO ID
MONDO_0014046
UMLS CUI
C3554517
OMIM ID
615107
MedGen ID
767431

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
KLLN OTV3FPH0 No Known 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.