DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×

Gene: CLN3 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CLN3 lysosomal/endosomal transmembrane protein, battenin

0.572

0.692

1.3E-07

CUI:	C0751383
Disease:	Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Neuronal Ceroid Lipofuscinosis

disease

1.000

None

0.994

0

1990

2019