Details of Disease

General Information of Disease (ID: DISITB5O)

Disease Name Amyotrophic lateral sclerosis type 11
Synonyms FIG4 amyotrophic lateral sclerosis; amyotrophic lateral sclerosis 11; amyotrophic lateral sclerosis type 11; amyotrophic lateral sclerosis caused by mutation in FIG4; ALS11
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISITB5O: Amyotrophic lateral sclerosis type 11
Disease Identifiers
MONDO ID
MONDO_0012945
UMLS CUI
C2675491
OMIM ID
612577
MedGen ID
393399

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FIG4 OT501PY9 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.