amyotrophic lateral sclerosis type 6

Summary
Synonym
  • ALS6
  • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
  • autosomal recessive amyotrophic lateral sclerosis 6
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
Super Class
amyotrophic lateral sclerosis
External Links
Disease Ontology
DOID:0060198
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4978 OPCML opioid binding protein/cell adhesion molecule like
5648 MASP1 MBL associated serine protease 1
8821 INPP4B inositol polyphosphate-4-phosphatase type II B
23098 SARM1 sterile alpha and TIR motif containing 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 36 in total
HPO ID HPO Term
HP:0000217 Xerostomia
HP:0000708 Atypical behavior
HP:0000712 Emotional lability
HP:0000713 Agitation
HP:0000716 Depression
HP:0000739 Anxiety
HP:0001257 Spasticity
HP:0001260 Dysarthria
HP:0001347 Hyperreflexia
HP:0002015 Dysphagia
Displaying all 2 entries
Gene ID Gene Symbol Description
55830 GLT8D1 glycosyltransferase 8 domain containing 1
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: August 19, 2024