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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
External Links
- Disease Ontology
- DOID:0110110
- Mondo Disease Ontology
- OMIM
Related Genes
| 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 |
Related Glycoprotein
