DisGeNET - a database of gene-disease associations

CLN8, CLN8 transmembrane ER and ERGIC protein, 2055

N. diseases: 50; N. variants: 53

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894060

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs137852883

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs139003032

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs28940569

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834124

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834125

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834126

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834127

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834130

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834133

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs746645358

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs104894060

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

GeneticVariation

CLINVAR

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs104894060

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs104894064

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1864923
Disease:

Northern epilepsy syndrome

0.800

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:

rs137852883

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs139003032

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs28940569

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834124

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

GeneticVariation

CLINVAR

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386834124

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834125

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834126

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834127

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834130

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs386834133

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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:

rs746645358

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

0.800

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