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 ×

Variant: rs1555468632 ×

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:

rs1555468632

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

17947292

2008

dbSNP:

rs1555468632

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

10332042

1999

dbSNP:

rs1555468632

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0751383
Disease:

Juvenile Neuronal Ceroid Lipofuscinosis

0.700

CausalMutation

CLINVAR

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.

7553855

1995