atrial heart septal defect 5

Summary
Synonym
  • ASD5
  • atrial septal defect 5
Definition
An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
Super Class
atrial heart septal defect autosomal dominant disease
Disease Ontology
DOID:0110110
Mondo Disease Ontology
OMIM
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 all 2 entries
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0001684 Secundum atrial septal defect
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