DisGeNET - a database of gene-disease associations

CEROID LIPOFUSCINOSIS, NEURONAL, 8, C1838570

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs746397087

CLN8

0.700

GeneticVariation

CLINVAR

CLN8 disease caused by large genomic deletions.

28116333

2017

dbSNP:

rs386834129

CLN8

0.700

GeneticVariation

UNIPROT

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

26443629

2016

dbSNP:

rs386834134

CLN8

0.700

GeneticVariation

UNIPROT

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

26443629

2016

dbSNP:

rs386834136

CLN8

0.700

GeneticVariation

UNIPROT

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

26443629

2016

dbSNP:

rs781166361

CLN8

0.700

GeneticVariation

UNIPROT

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

26443629

2016

dbSNP:

rs144495588

CLN8

0.700

GeneticVariation

CLINVAR

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

26075876

2015

dbSNP:

rs386834129

CLN8

0.700

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:

rs386834132

CLN8

0.700

GeneticVariation

CLINVAR

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

22220808

2012

dbSNP:

rs386834134

CLN8

0.700

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:

rs386834136

CLN8

0.700

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:

rs781166361

CLN8

0.700

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:

rs386834129

CLN8

0.700

GeneticVariation

UNIPROT

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

19807737

2010

dbSNP:

rs386834134

CLN8

0.700

GeneticVariation

UNIPROT

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

19807737

2010

dbSNP:

rs386834136

CLN8

0.700

GeneticVariation

UNIPROT

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

19807737

2010

dbSNP:

rs781166361

CLN8

0.700

GeneticVariation

UNIPROT

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

19807737

2010

dbSNP:

rs386834129

CLN8

0.700

GeneticVariation

UNIPROT

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

19431184

2009

dbSNP:

rs386834129

CLN8

0.700

GeneticVariation

UNIPROT

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

19201763

2009

dbSNP:

rs386834134

CLN8

0.700

GeneticVariation

UNIPROT

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

19431184

2009

dbSNP:

rs386834134

CLN8

0.700

GeneticVariation

UNIPROT

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

19201763

2009

dbSNP:

rs386834136

CLN8

0.700

GeneticVariation

UNIPROT

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

19431184

2009

dbSNP:

rs386834136

CLN8

0.700

GeneticVariation

UNIPROT

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

19201763

2009

dbSNP:

rs781166361

CLN8

0.700

GeneticVariation

UNIPROT

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

19201763

2009

dbSNP:

rs781166361

CLN8

0.700

GeneticVariation

UNIPROT

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

19431184

2009

dbSNP:

rs386834129

CLN8

0.700

GeneticVariation

UNIPROT

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

16570191

2006

dbSNP:

rs386834134

CLN8

0.700

GeneticVariation

UNIPROT

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

16570191

2006