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Standards Ontologies Notations
dilated cardiomyopathy 1FF

Summary
Synonym
  • CMD1FF
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.
Super Class
dilated cardiomyopathy monogenic disease
Disease Ontology
DOID:0110459
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7137 TNNI3 troponin I3, cardiac type
Displaying 1 entry
Gene ID Gene Symbol Description Source
21954 Tnni3 troponin I, cardiac 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
29248 Tnni3 troponin I3, cardiac type
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0003198 Myopathy
HP:0100578 Lipoatrophy
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
70 ACTC1 actin alpha cardiac muscle 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024