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trichohepatoenteric syndrome 1
Summary
- Synonym
-
- THES1
- Definition
- A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15.
- Super Class
- trichohepatoenteric syndrome
External Links
- Disease Ontology
- DOID:0111415
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 2271 | FH | fumarate hydratase | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 4023 | LPL | lipoprotein lipase | |
| 4099 | MAG | myelin associated glycoprotein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P232 | Contactin-3 | |
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
