Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Summary
- Synonym
-
- ALS17
- AMYOTROPHIC LATERAL SCLEROSIS
- AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)
- CHMP2B-RELATED
- CHMP2B-related frontotemporal dementia
- FRONTOTEMPORAL DEMENTIA
- FTD3
- FTDALS7
- amyotrophic lateral sclerosis type 17
- chromosome 3-linked frontotemporal dementia
- Definition
- A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
- Super Class
- amyotrophic lateral sclerosis frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111227
- Mondo Disease Ontology
- MeSH
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UQN3 | Charged multivesicular body protein 2b |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007340 | Lower limb muscle weakness |
| HP:0001257 | Spasticity |
| HP:0003470 | Paralysis |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0002360 | Sleep abnormality |
| HP:0100543 | Cognitive impairment |
| HP:0001288 | Gait disturbance |
| HP:0000723 | Restrictive behavior |
| HP:0000710 | Hyperorality |
| HP:0002465 | Poor speech |
