Details of Disease | DrugMAP

General Information of Disease (ID: DISIQNXO)

Disease Name	Amyotrophic lateral sclerosis, susceptibility to, 24
Synonyms	ALS24; amyotrophic lateral sclerosis, susceptibility to, 24
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISIQNXO: Amyotrophic lateral sclerosis, susceptibility to, 24
Disease Identifiers	MONDO ID MONDO_0054750 UMLS CUI C4693523 OMIM ID 617892 MedGen ID 1632999

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
NEK1	TTO5QT2	moderate	Biomarker	[1]
NEK1	TTO5QT2	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
NEK1	OTBUCUW6	Definitive	Autosomal dominant	[2]
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References

1	Mutation screening of NEK1 in Chinese ALS patients.Neurobiol Aging. 2018 Nov;71:267.e1-267.e4. doi: 10.1016/j.neurobiolaging.2018.06.022. Epub 2018 Jun 28.
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.