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 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
353 APRT adenine phosphoribosyltransferase
427 ASAH1 N-acylsphingosine amidohydrolase 1
847 CAT catalase
2220 FCN2 ficolin 2
2674 GFRA1 GDNF family receptor alpha 1
3074 HEXB hexosaminidase subunit beta
3099 HK2 hexokinase 2
4907 NT5E 5'-nucleotidase ecto
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000020 Urinary incontinence
HP:0000252 Microcephaly
HP:0000605 Supranuclear gaze palsy
HP:0000639 Nystagmus
HP:0000708 Atypical behavior
HP:0001251 Ataxia
HP:0001263 Global developmental delay
HP:0001264 Spastic diplegia
HP:0001276 Hypertonia
HP:0001300 Parkinsonism
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