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