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
External Links
Disease Ontology
DOID:0110430
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 41 in total
Gene ID Gene Symbol Description Source
6392 SDHD succinate dehydrogenase complex subunit D
6517 SLC2A4 solute carrier family 2 member 4
7941 PLA2G7 phospholipase A2 group VII
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
10135 NAMPT nicotinamide phosphoribosyltransferase
22845 DOLK dolichol kinase
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
81031 SLC2A10 solute carrier family 2 member 10
148738 HJV hemojuvelin BMP co-receptor
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
Displaying all 3 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024