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atrial heart septal defect 6
Summary
- Synonym
-
- ASD6
- atrial septal defect 6
- Definition
- An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32.
- Super Class
- atrial heart septal defect autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110111
- Mondo Disease Ontology
- OMIM
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 |
|---|---|---|
| Q9Y625 | Glypican-6 |
