atrial heart septal defect 8

Summary
Synonym
  • ASD8
  • atrial septal defect 8
Definition
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.
Super Class
atrial heart septal defect autosomal dominant disease
External Links
Disease Ontology
DOID:0110113
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 20 of 38 in total
Gene ID Gene Symbol Description Source
2218 FKTN fukutin
2548 GAA alpha glucosidase
2719 GPC3 glypican 3
4594 MMUT methylmalonyl-CoA mutase
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5337 PLD1 phospholipase D1
5648 MASP1 MBL associated serine protease 1
5728 PTEN phosphatase and tensin homolog
5973 RENBP renin binding protein

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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