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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
| 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 |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O94766 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 | |
| O95427 | GPI ethanolamine phosphate transferase 1 | |
| P04040 | Catalase | |
| P0CG37 | Cryptic protein | |
| P10253 | Lysosomal alpha-glucosidase | |
| P15289 | Arylsulfatase A | |
| P21964 | Catechol O-methyltransferase | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
| P29401 | Transketolase |
