×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GermlineCausalMutation
disease
ORPHANET
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
23160995
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
22727047
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
22532218
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
CausalMutation
disease
CLINVAR
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
23160995
2012
×
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
×
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
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
CausalMutation
disease
CLINVAR
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
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
20157158
2010
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.970
GeneticVariation
disease
BEFREE
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
20052765
2010
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.100
GeneticVariation
disease
CLINVAR
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
20157158
2010
×
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
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
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
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
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
15728307
2005
×
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:
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