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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 |
|---|---|---|---|
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9663 | LPIN2 | lipin 2 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 55750 | AGK | acylglycerol kinase | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 60495 | HPSE2 | heparanase 2 (inactive) | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 145173 | B3GLCT | beta 3-glucosyltransferase |
Related Glycoprotein
