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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 |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 410 | ARSA | arylsulfatase A | |
| 414 | ARSD | arylsulfatase D | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 847 | CAT | catalase | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 |
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 |
