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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 |
|---|---|---|---|
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5067 | CNTN3 | contactin 3 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
