×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24058541
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
20052765
2010
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
20052765
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
18684116
2008
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
18684116
2008
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
17607606
2007
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
19309691
2009
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
26342652
2015
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
10953198
2000
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12134079
2002
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL ).
28442266
2017
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
Mutations in CLN5 underlie CLN5 disease.
28487519
2017
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
2013
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165
2013
×
Entrez Id:
497231
Gene Symbol:
CLN9
CLN9
0.010
GeneticVariation
disease
BEFREE
Four patients with juvenile neuronal ceroid lipofuscinoses, a childhood neurodegenerative disorder that was previously described as CLN9 variant, are reclassified as CLN5 disease.
23160995
2012