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 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:0003444 | EMG: chronic denervation signs |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0011448 | Ankle clonus |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003596 | Middle age onset |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0003803 | Type 1 muscle fiber predominance |
