hypertrophic cardiomyopathy 11

Summary
Synonym
  • CMH11
  • cardiomyopathy familial hypertrophic 11
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
Super Class
familial hypertrophic cardiomyopathy
Disease Ontology
DOID:0110317
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
60 ACTB actin beta
70 ACTC1 actin alpha cardiac muscle 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11461 Actb actin, beta
11464 Actc1 actin, alpha, cardiac muscle 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29275 Actc1 actin, alpha, cardiac muscle 1
81822 Actb actin, beta
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0003596 Middle age onset
HP:0000006 Autosomal dominant inheritance
HP:0003621 Juvenile onset
HP:0001681 Angina pectoris
HP:0011711 Left anterior fascicular block
HP:0001631 Atrial septal defect
HP:0002094 Dyspnea
HP:0011713 Left bundle branch block
HP:0001712 Left ventricular hypertrophy
HP:0004756 Ventricular tachycardia
Displaying 1 entry
Gene ID Gene Symbol Description
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: December 9, 2024