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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:0009027 | Foot dorsiflexor weakness |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0012378 | Fatigue |
| HP:0012473 | Tongue atrophy |
| HP:0012531 | Pain |
| HP:0100543 | Cognitive impairment |
