Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 19309691

2009
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 17607606

2007
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network. 26342652

2015
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
A 0.810 CausalMutation CLINVAR

dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation BEFREE This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network. 26342652

2015
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 15728307

2005
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010