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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Summary
- Definition
- A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
- Super Class
- autosomal dominant disease frontotemporal dementia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2675 | GFRA2 | GDNF family receptor alpha 2 | |
| 2731 | GLDC | glycine decarboxylase | |
| 4680 | CEACAM6 | CEA cell adhesion molecule 6 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5660 | PSAP | prosaposin | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 8398 | PLA2G6 | phospholipase A2 group VI |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00187 | Mannan-binding lectin serine protease 2 | |
| O00451 | GDNF family receptor alpha-2 | |
| O94923 | D-glucuronyl C5-epimerase | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P07602 | Prosaposin | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P12821 | Angiotensin-converting enzyme | |
| P22303 | Acetylcholinesterase |
