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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
atrial heart septal defect 3
Summary
- Synonym
-
- ASD3
- atrial septal defect 3
- Definition
- An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
- Super Class
- atrial heart septal defect
External Links
- Disease Ontology
- DOID:0110108
- 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13393 | Phospholipase D1 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q6Y288 | Beta-1,3-glucosyltransferase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q8NCH0 | Carbohydrate sulfotransferase 14 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9UL01 | Dermatan-sulfate epimerase | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
