Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198

2000
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079

2002
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 15728307

2005
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
C 0.800 GeneticVariation CLINVAR

dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 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: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 17607606

2007
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 19309691

2009
dbSNP: rs1057516390
rs1057516390
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516814
rs1057516814
CLN5 ; FBXL3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517134
rs1057517134
CLN5 ; FBXL3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116

2008
dbSNP: rs147065248
rs147065248
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT

dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 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: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
G 0.800 CausalMutation CLINVAR