hypertrophic cardiomyopathy 1

Summary
Synonym
  • CMH1
  • cardiomyopathy, familial hypertrophic 1
  • hypertrophic cardiomyopathy 19
Definition
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.
Super Class
familial hypertrophic cardiomyopathy
External Links
Disease Ontology
DOID:0110307
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
1636 ACE angiotensin I converting enzyme
2717 GLA galactosidase alpha
2799 GNS glucosamine (N-acetyl)-6-sulfatase
3383 ICAM1 intercellular adhesion molecule 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
6448 SGSH N-sulfoglucosamine sulfohydrolase
80339 PNPLA3 patatin like phospholipase domain containing 3
Related Glycoprotein
Displaying entries 11 - 12 of 12 in total
UniProt ID Protein Name Source
Q96L12 Calreticulin-3
Q9NST1 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3

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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