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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 |
|---|---|---|---|
| 29940 | DSE | dermatan sulfate epimerase | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 79087 | ALG12 | ALG12 alpha-1,6-mannosyltransferase | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 | |
| 145173 | B3GLCT | beta 3-glucosyltransferase |
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 |
