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
Disease Ontology
DOID:0060198
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2130 EWSR1 EWS RNA binding protein 1
2521 FUS FUS RNA binding protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14030 Ewsr1 Ewing sarcoma breakpoint region 1
233908 Fus fused in sarcoma
The Human Phenotype Ontology
Displaying entries 41 - 50 of 63 in total
HPO ID HPO Term
HP:0000738 Hallucinations
HP:0003701 Proximal muscle weakness
HP:0002073 Progressive cerebellar ataxia
HP:0010549 Weakness due to upper motor neuron dysfunction
HP:0002186 Apraxia
HP:0001283 Bulbar palsy
HP:0002442 Dyscalculia
HP:0000508 Ptosis
HP:0002273 Tetraparesis
HP:0002460 Distal muscle weakness
Displaying all 6 entries
Gene ID Gene Symbol Description
5445 PON2 paraoxonase 2
5444 PON1 paraoxonase 1
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