atrial heart septal defect 3

Summary
Synonym
  • ASD3
  • atrial septal defect 3
Definition
An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
Super Class
atrial heart septal defect
Disease Ontology
DOID:0110108
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
The Human Phenotype Ontology
Displaying entries 11 - 20 of 33 in total
HPO ID HPO Term
HP:0001297 Stroke
HP:0002718 Recurrent bacterial infections
HP:0001635 Congestive heart failure
HP:0002090 Pneumonia
HP:0005180 Tricuspid regurgitation
HP:0012250 ST segment depression
HP:0005110 Atrial fibrillation
HP:0010741 Pedal edema
HP:0004749 Atrial flutter
HP:0011705 First degree atrioventricular block
Displaying 1 entry
Gene ID Gene Symbol Description
70 ACTC1 actin alpha cardiac muscle 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024