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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 |
|---|---|---|
| O00400 | Acetyl-coenzyme A transporter 1 | |
| O15327 | Inositol polyphosphate 4-phosphatase type II | |
| O60502 | Protein O-GlcNAcase | |
| P04040 | Catalase | |
| P05187 | Alkaline phosphatase, placental type | |
| P07203 | Glutathione peroxidase 1 | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09923 | Intestinal-type alkaline phosphatase | |
| P21589 | 5'-nucleotidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002017 | Nausea and vomiting |
| HP:0002094 | Dyspnea |
| HP:0002145 | Frontotemporal dementia |
| HP:0002180 | Neurodegeneration |
| HP:0002360 | Sleep abnormality |
| HP:0002380 | Fasciculations |
| HP:0002463 | Language impairment |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
