Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995

2017
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. 27679995

2016
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528

2013
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Mutations in a P-type ATPase gene cause axonal degeneration. 22912588

2012