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dilated cardiomyopathy 1NN

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
Uniprot Description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Disease Ontology Description A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25.
Mondo Term and Equivalent IDs
MONDO:0014396:  dilated cardiomyopathy 1NN
UMLS:C4014656: