Details of Disease

General Information of Disease (ID: DIS1NFXS)

Disease Name Amyotrophic lateral sclerosis, susceptibility to, 25
Synonyms ALS25; amyotrophic lateral sclerosis, susceptibility to, 25
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DIS1NFXS: Amyotrophic lateral sclerosis, susceptibility to, 25
Disease Identifiers
MONDO ID
MONDO_0060670
UMLS CUI
C4693609
OMIM ID
617921
MedGen ID
1633917

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KIF5A TTCJPAH Strong Genetic Variation [1]
KIF5A TTCJPAH Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KIF5A OT3ETTI6 Definitive Autosomal dominant [2]
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References

1 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.