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:

rs386834126

CLN8

0.800

GeneticVariation

UNIPROT

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

19431184

2009

dbSNP:

rs386834127

CLN8

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs386834127

CLN8

0.800

GeneticVariation

UNIPROT

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

19431184

2009

dbSNP:

rs386834130

CLN8

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs386834130

CLN8

0.800

GeneticVariation

UNIPROT

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

19431184

2009

dbSNP:

rs386834133

CLN8

0.800

GeneticVariation

UNIPROT

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

19431184

2009

dbSNP:

rs386834133

CLN8

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs746645358

CLN8

0.800

GeneticVariation

CLINVAR

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

19201763

2009

dbSNP:

rs746645358

CLN8

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs746645358

CLN8

0.800

GeneticVariation

UNIPROT

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

19431184

2009

dbSNP:

rs104894060

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs137852883

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs139003032

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs28940569

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834124

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834125

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834126

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834127

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834130

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs386834133

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs746645358

CLN8

0.800

GeneticVariation

CLINVAR

Molecular genetics of the NCLs -- status and perspectives.

16828266

2006

dbSNP:

rs746645358

CLN8

0.800

GeneticVariation

UNIPROT

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

16570191

2006

dbSNP:

rs104894060

CLN8

0.800

GeneticVariation

UNIPROT

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

15024724

2004

dbSNP:

rs104894060

CLN8

0.800

GeneticVariation

CLINVAR

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

15160397

2004

dbSNP:

rs104894060

CLN8

0.800

GeneticVariation

CLINVAR

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

15024724

2004