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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 |
|---|---|---|---|
| 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 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| 57103 | TIGAR | TP53 induced glycolysis regulatory phosphatase | |
| 65078 | RTN4R | reticulon 4 receptor | |
| 152330 | CNTN4 | contactin 4 |
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:0009027 | Foot dorsiflexor weakness |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0012378 | Fatigue |
| HP:0012473 | Tongue atrophy |
| HP:0012531 | Pain |
| HP:0100543 | Cognitive impairment |
