×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
CTD_human
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
CausalMutation
disease
CLINVAR
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Autosomal dominance in a late-onset motor neuron disease in the mouse.
3783318
1986
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS).
1639406
1992
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Retinal degeneration in motor neuron degeneration (mnd) mutant mice.
8282051
1993
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease).
7683855
1993
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
MGD
An early-onset congenic strain of the motor neuron degeneration (mnd) mouse.
10191135
1999
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
10508524
1999
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
10861296
2000
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
BEFREE
Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8 ).
11332769
2001
×
Entrez Id:
1203
Gene Symbol:
CLN5
CLN5
0.010
Biomarker
disease
BEFREE
Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5 ), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8 ).
11332769
2001
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
15024724
2004
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
15160397
2004
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
15024724
2004
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Molecular genetics of the NCLs -- status and perspectives.
16828266
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
BEFREE
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
16570191
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
16570191
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
Biomarker
disease
GENOMICS_ENGLAND
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
16570191
2006
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
19431184
2009
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
UNIPROT
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
19807737
2010
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
CLINVAR
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
19807737
2010
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.940
GeneticVariation
disease
BEFREE
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
21990111
2012