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:

rs386833744

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:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833694

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

CausalMutation

CLINVAR

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833695

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833714

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833719

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833727

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833731

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833744

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

UNIPROT

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833714

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833719

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833727

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833731

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833744

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833702

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs386833728

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs386833697

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

23539563

2013

dbSNP:

rs386833740

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

23374165

2013

dbSNP:

rs267606737

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

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:

rs267606737

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

GeneticVariation

CLINVAR

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.

22545070

2012

dbSNP:

rs386833697

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

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:

rs386833701

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

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:

rs386833702

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

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

21990111

2012