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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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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:0000217 | Xerostomia |
| HP:0000708 | Atypical behavior |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0012473 | Tongue atrophy |
| HP:0002015 | Dysphagia |
| HP:0004326 | Cachexia |
| HP:0000739 | Anxiety |
| HP:0003394 | Muscle spasm |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0002180 | Neurodegeneration |
