PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Disease: Infantile Neuroaxonal Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780116189
rs780116189
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease:
Infantile Neuroaxonal Dystrophy 		0.010 GeneticVariation BEFREE The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patient with dystonia-parkinsonism had PLA2G6 mutations NM_003560.2: c.[609G>A];[2222G>A]. 26668131 2016