Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group BEFREE All patients with ATP8A2 mutations (100%) demonstrated developmental delay, severe hypotonia and movement disorders, specifically chorea or choreoathetosis (100%), dystonia (27%) and facial dyskinesia (18%). 30012219 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. 27679995 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Mutations in a P-type ATPase gene cause axonal degeneration. 22912588 2012