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