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 11 - 20 of 41 in total
Gene ID Gene Symbol Description Source
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3033 HADH hydroxyacyl-CoA dehydrogenase
3155 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3939 LDHA lactate dehydrogenase A
3958 LGALS3 galectin 3
4023 LPL lipoprotein lipase
4190 MDH1 malate dehydrogenase 1
4534 MTM1 myotubularin 1
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
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024