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Standards Ontologies Notations
amyotrophic lateral sclerosis type 11

Summary
Synonym
  • ALS11
  • amyotrophic lateral sclerosis 11
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060202
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
33658 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855392 FIG4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase
The Human Phenotype Ontology
Displaying entries 41 - 42 of 42 in total
HPO ID HPO Term
HP:0003581 Adult onset
HP:0002483 Bulbar signs
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