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amyotrophic lateral sclerosis type 2
Summary
- Synonym
-
- ALS2
- amyotrophic lateral sclerosis 2
- amyotrophic lateral sclerosis 2, juvenile
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060194
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 847 | CAT | catalase | |
| 2220 | FCN2 | ficolin 2 | |
| 2674 | GFRA1 | GDNF family receptor alpha 1 | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3099 | HK2 | hexokinase 2 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P04040 | Catalase | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P07741 | Adenine phosphoribosyltransferase | |
| P21589 | 5'-nucleotidase | |
| P22303 | Acetylcholinesterase | |
| P52789 | Hexokinase-2 | |
| P56159 | GDNF family receptor alpha-1 | |
| Q13510 | Acid ceramidase | |
| Q15485 | Ficolin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0002425 | Anarthria |
| HP:0002460 | Distal muscle weakness |
| HP:0002483 | Bulbar signs |
| HP:0002530 | Axial dystonia |
| HP:0002540 | Inability to walk |
| HP:0002544 | Retrocollis |
| HP:0002599 | Head titubation |
| HP:0002650 | Scoliosis |
| HP:0003202 | Skeletal muscle atrophy |
