DisGeNET - a database of gene-disease associations

CLN3, CLN3 lysosomal/endosomal transmembrane protein, battenin, 1201

N. diseases: 120; N. variants: 80

Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×

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:

rs386833719

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

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:

rs386833719

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

22261744

2012

dbSNP:

rs386833727

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

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:

rs386833727

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

22261744

2012

dbSNP:

rs386833731

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

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:

rs386833731

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

22261744

2012

dbSNP:

rs386833744

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

22261744

2012

dbSNP:

rs386833744

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

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:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

21499717

2011

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

20187884

2010

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

19132115

2009

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

19132115

2009

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

CausalMutation

CLINVAR

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

19132115

2009

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.

12189165

2002

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein.

10924275

2000

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Batten disease: evaluation of CLN3 mutations on protein localization and function.

10749980

2000

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

CausalMutation

CLINVAR

Batten disease: evaluation of CLN3 mutations on protein localization and function.

10749980

2000

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

A yeast model for the study of Batten disease.

9618513

1998

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

A yeast model for the study of Batten disease.

9618513

1998

dbSNP:

rs386833714

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998

dbSNP:

rs386833719

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998

dbSNP:

rs386833727

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998

dbSNP:

rs386833731

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

9490299

1998