dilated cardiomyopathy 1O

Summary
Synonym
  • CMD1O
  • dilated cardiomyopathy with ventricular tachycardia
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
Super Class
dilated cardiomyopathy monogenic disease
Disease Ontology
DOID:0110451
Mondo Disease Ontology
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10060 ABCC9 ATP binding cassette subfamily C member 9
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O60706 ATP-binding cassette sub-family C member 9
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0001635 Congestive heart failure
HP:0003198 Myopathy
Displaying all 4 entries
Gene ID Gene Symbol Description
2218 FKTN fukutin
22845 DOLK dolichol kinase
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: April 6, 2026