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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 GeneticVariation phenotype BEFREE A novel compound heterozygous mutation of the PLA2G6 gene, c.1648delC and c.991G > T, is associated with adult onset ataxia. 31196701 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 CausalMutation phenotype CLINVAR