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
Displaying entries 11 - 16 of 16 in total
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
The Human Phenotype Ontology
Displaying entries 31 - 40 of 43 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1

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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: August 19, 2024