General Information of Disease (ID: DIS68KSY)

Disease Name Dilated cardiomyopathy 1NN
Synonyms
cardiomyopathy, dilated, 1NN; familial isolated dilated cardiomyopathy caused by mutation in RAF1; dilated cardiomyopathy type 1NN; RAF1 familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, type 1Nn; CMD1NN
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DIS68KSY: Dilated cardiomyopathy 1NN
Disease Identifiers
MONDO ID
MONDO_0014396
UMLS CUI
C4014656
OMIM ID
615916
MedGen ID
863093

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAF1 TTB18GJ Strong Autosomal dominant [1]
RAF1 TTAN5W2 Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAF1 OT51LSFO Strong Autosomal dominant [1]
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References

1 RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28.