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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
amyotrophic lateral sclerosis type 6
Summary
- Synonym
-
- ALS6
- amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
- autosomal recessive amyotrophic lateral sclerosis 6
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
- Super Class
- amyotrophic lateral sclerosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15327 | Inositol polyphosphate 4-phosphatase type II | |
| P48740 | Mannan-binding lectin serine protease 1 | |
| Q14982 | Opioid-binding protein/cell adhesion molecule | |
| Q6SZW1 | NAD(+) hydrolase SARM1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003324 | Generalized muscle weakness |
| HP:0003394 | Muscle spasm |
| HP:0003470 | Paralysis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0004326 | Cachexia |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0007373 | Motor neuron atrophy |
| HP:0008955 | Progressive distal muscular atrophy |
