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Standards Ontologies Notations
Guidelines
MIRAGE
dilated cardiomyopathy 1G

Summary
Synonym
  • CMD1G
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.
Super Class
dilated cardiomyopathy monogenic disease
Disease Ontology
DOID:0110430
Mondo Disease Ontology
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7273 TTN titin
Displaying 1 entry
Gene ID Gene Symbol Description Source
22138 Ttn titin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8WZ42 Titin
Displaying 1 entry
UniProt ID Protein Name Source
A2ASS6 Titin
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
70 ACTC1 actin alpha cardiac muscle 1
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
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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: August 4, 2025