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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 |
|---|---|---|---|
| 10462 | CLEC10A | C-type lectin domain containing 10A | |
| 10724 | OGA | O-GlcNAcase | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 57103 | TIGAR | TP53 induced glycolysis regulatory 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:0003429 | CNS hypomyelination |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003722 | Neck flexor weakness |
| HP:0004326 | Cachexia |
| HP:0005750 | Lower-limb joint contracture |
| HP:0006986 | Upper limb spasticity |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0012048 | Oromandibular dystonia |
