×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
CTD_human
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
9662406
1998
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
9662406
1998
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
GENOMICS_ENGLAND
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
9662406
1998
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
9662406
1998
×
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:
4691
Gene Symbol:
NCL
NCL
0.010
GeneticVariation
disease
BEFREE
We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene.
12673792
2003
×
Entrez Id:
54982
Gene Symbol:
CLN6
CLN6
0.010
GeneticVariation
disease
BEFREE
We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene.
12673792
2003
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
Biomarker
disease
MGD
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
15459177
2004
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
15728307
2005
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
16814585
2006
×
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
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
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
UNIPROT
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010