Details of Disease | DrugMAP

General Information of Disease (ID: DISRW48Z)

Disease Name	ATP1A3-associated neurological disorder
Synonyms	neurological disorder caused by mutation in ATP1A3; ATP1A3 neurological disorder; ATP1A3 related neurological disorder
Definition	Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISCFBRD: Neurological disorder DISRW48Z: ATP1A3-associated neurological disorder

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
ATP1A3	OTM8EG6H	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	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.