Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158

2010

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870

2002

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998