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 21 - 30 of 38 in total
Gene ID Gene Symbol Description Source
6888 TALDO1 transaldolase 1
7086 TKT transketolase
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9126 SMC3 structural maintenance of chromosomes 3
9469 CHST3 carbohydrate sulfotransferase 3
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10082 GPC6 glypican 6
23483 TGDS TDP-glucose 4,6-dehydratase
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
26229 B3GAT3 beta-1,3-glucuronyltransferase 3

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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