DisGeNET - a database of gene-disease associations

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

N. diseases: 120; N. variants: 80

Disease: Neuronal Ceroid-Lipofuscinoses ×

Variant: rs267606737 ×

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:

rs267606737

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.710

GeneticVariation

BEFREE

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

19489875

2009

dbSNP:

rs267606737

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.710

CausalMutation

CLINVAR