dilated cardiomyopathy 1R

Summary
Synonym
  • CMD1R
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110456
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
70 ACTC1 actin alpha cardiac muscle 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11464 Actc1 actin, alpha, cardiac muscle 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29275 Actc1 actin, alpha, cardiac muscle 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 20 in total
HPO ID HPO Term
HP:0003198 Myopathy
HP:0100578 Lipoatrophy
HP:0001712 Left ventricular hypertrophy
HP:0004308 Ventricular arrhythmia
HP:0011463 Childhood onset
HP:0003596 Middle age onset
HP:0000006 Autosomal dominant inheritance
HP:0003621 Juvenile onset
HP:0011462 Young adult onset
HP:0001723 Restrictive cardiomyopathy
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: August 19, 2024