Details of Disease

General Information of Disease (ID: DISYUFV5)

Disease Name Dilated cardiomyopathy 1FF
Synonyms cardiomyopathy, dilated, 1FF; dilated cardiomyopathy type 1FF; cardiomyopathy, dilated, type 1Ff; CMD1FF
Definition A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISYUFV5: Dilated cardiomyopathy 1FF
Disease Identifiers
MONDO ID
MONDO_0013211
MESH ID
C567654
UMLS CUI
C2750091
OMIM ID
613286
MedGen ID
412876

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
TNNI3 TTNLDK6 Strong Autosomal dominant [1]
TNNI3 TTNLDK6 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNNI3 OT65E12V Strong Autosomal dominant [1]
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References

1 Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy. Circ Res. 2000 Oct 27;87(9):805-11. doi: 10.1161/01.res.87.9.805.
2 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.