Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration. 27378808

2016
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 24745848

2014
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 20619503

2012
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 20886109

2010
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR Infantile neuroaxonal dystrophy: what's most important for the diagnosis? 18359254

2008
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR Neurodegeneration associated with genetic defects in phospholipase A(2). 18799783

2008
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 CausalMutation CLINVAR PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 16783378

2006
dbSNP: rs121908680
rs121908680
PLA2G6 ; BAIAP2L2
C 0.700 GeneticVariation CLINVAR