atrial heart septal defect 7

Summary
Synonym
  • ASD with or without atrioventricular conduction defects
  • atrial septal defect 7, with or without AV conduction defects
  • atrial septal defect-atrioventricular conduction defects syndrome
Definition
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
Super Class
atrial heart septal defect autosomal dominant disease
External Links
Disease Ontology
DOID:0110112
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 38 in total
Gene ID Gene Symbol Description Source
37 ACADVL acyl-CoA dehydrogenase very long chain
410 ARSA arylsulfatase A
414 ARSD arylsulfatase D
523 ATP6V1A ATPase H+ transporting V1 subunit A
847 CAT catalase
1312 COMT catechol-O-methyltransferase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
Related Glycoprotein
Displaying entry 31 - 31 of 31 in total
UniProt ID Protein Name Source
Q9Y625 Glypican-6

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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