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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 6
Summary
- Synonym
-
- ALS14
- amyotrophic lateral sclerosis 14
- amyotrophic lateral sclerosis type 14
- amyotrophic lateral sclerosis, with or without frontotemporal dementia
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060205
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55072 | Transitional endoplasmic reticulum ATPase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0002094 | Dyspnea |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0002380 | Fasciculations |
| HP:0001260 | Dysarthria |
| HP:0003484 | Upper limb muscle weakness |
| HP:0012473 | Tongue atrophy |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0002015 | Dysphagia |
