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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 |
|---|---|---|---|
| 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 |
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 |
