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amyotrophic lateral sclerosis type 1
Summary
- Synonym
-
- ALS1
- amyotrophic lateral sclerosis 1
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0060193
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
-
- 5449903
- 5056450
- 5286592
- 5297589
- 5431238
- 5448463
- 5448548
- 5448549
- 5449421
- 5449422
- 5449895
- 5449898
- 5449900
- 4849842
- 5490471
- 5499112
- 5621058
- 5621062
- 5621173
- 5621175
- 5630057
- 5699329
- 5699330
- 5707946
- 5749248
- 6286689
- 3796444
- 2183668
- 2183672
- 2183678
- 2446420
- 3629232
- 3629233
- 3639891
- 3687994
- 3688004
- 3693880
- 3785389
- 3785390
- 2183662
- 3813319
- 3814056
- 3814057
- 3814058
- 3814059
- 3832406
- 3832567
- 3833108
- 4440461
- 4822033
- 4829786
- 4839171
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 248 | ALPI | alkaline phosphatase, intestinal | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 847 | CAT | catalase | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 2220 | FCN2 | ficolin 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6ZRI0 | Otogelin | |
| Q8IUN9 | C-type lectin domain family 10 member A | |
| Q8IWV2 | Contactin-4 | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 | |
| Q9BZR6 | Reticulon-4 receptor | |
| Q9NQ88 | Fructose-2,6-bisphosphatase TIGAR | |
| Q9NRA2 | Sialin |
- 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 |
