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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 7007 | TECTA | tectorin alpha | |
| 7086 | TKT | transketolase | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 8658 | TNKS | tankyrase | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P10645 | Chromogranin-A | |
| P12821 | Angiotensin-converting enzyme | |
| P16152 | Carbonyl reductase [NADPH] 1 | |
| P20916 | Myelin-associated glycoprotein | |
| P22304 | Iduronate 2-sulfatase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P22897 | Macrophage mannose receptor 1 | |
| P27797 | Calreticulin | |
| P29401 | Transketolase |
