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Standards Ontologies Notations
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
Disease Ontology
DOID:0060193
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
1639 DCTN1 dynactin subunit 1
4744 NEFH neurofilament heavy chain
5630 PRPH peripherin
6623 SNCG synuclein gamma
6647 SOD1 superoxide dismutase 1
6648 SOD2 superoxide dismutase 2
7422 VEGFA vascular endothelial growth factor A
Displaying all 6 entries
Gene ID Gene Symbol Description Source
13191 Dctn1 dynactin 1
20618 Sncg synuclein, gamma
20655 Sod1 superoxide dismutase 1, soluble
20656 Sod2 superoxide dismutase 2, mitochondrial
22339 Vegfa vascular endothelial growth factor A
380684 Nefh neurofilament, heavy polypeptide
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24787 Sod2 superoxide dismutase 2
29167 Dctn1 dynactin subunit 1
64347 Sncg synuclein, gamma
83785 Vegfa vascular endothelial growth factor A
Displaying 1 entry
Gene ID Gene Symbol Description Source
36232 Sod3 Superoxide dismutase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
30682 vegfaa vascular endothelial growth factor Aa
The Human Phenotype Ontology
Displaying entries 21 - 30 of 36 in total
HPO ID HPO Term
HP:0007373 Motor neuron atrophy
HP:0002878 Respiratory failure
HP:0009027 Foot dorsiflexor weakness
HP:0003470 Paralysis
HP:0012531 Pain
HP:0007340 Lower limb muscle weakness
HP:0002795 Abnormal respiratory system physiology
HP:0008955 Progressive distal muscular atrophy
HP:0003394 Muscle spasm
HP:0012473 Tongue atrophy
Displaying all 6 entries
Gene ID Gene Symbol Description
5444 PON1 paraoxonase 1
5445 PON2 paraoxonase 2
5446 PON3 paraoxonase 3
55830 GLT8D1 glycosyltransferase 8 domain containing 1
7415 VCP valosin containing protein
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024