PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
0.140 GeneticVariation disease BEFREE Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. 27884548 2017
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
0.140 GeneticVariation disease BEFREE Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome. 26001724 2015
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
0.140 GeneticVariation disease BEFREE Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. 24130795 2013
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
0.140 Biomarker disease BEFREE PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome. 20938027 2010
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome
0.140 CausalMutation disease CLINVAR