Details of Disease | DrugMAP

General Information of Disease (ID: DISY3OI7)

Disease Name	Amyotrophic lateral sclerosis type 23
Synonyms	amyotrophic lateral sclerosis 23; ALS23
Disease Hierarchy	DISWZ9CJ: Familial amyotrophic lateral sclerosis DISY3OI7: Amyotrophic lateral sclerosis type 23
Disease Identifiers	MONDO ID MONDO_0027694 UMLS CUI C4693381 OMIM ID 617839 MedGen ID 1645924

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANXA11	DTGQ2CF	Strong	Biomarker	[1]
ANXA11	DTGQ2CF	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
ANXA11	OT8SRY1C	Definitive	Autosomal dominant	[2]
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References

1	ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.Neurol Genet. 2018 May 22;4(3):e237. doi: 10.1212/NXG.0000000000000237. eCollection 2018 Jun.
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.