DisGeNET - a database of gene-disease associations

CLN8, CLN8 transmembrane ER and ERGIC protein, 2055

N. diseases: 50; N. variants: 53

Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 ×

Variant: rs1554451504 ×

Source: ALL

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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:

rs1554451504

rs1554451504

Entrez Id:	2055
Gene Symbol:	CLN8

CLN8

CUI:	C1838570
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 8

A

0.700

GeneticVariation

CLINVAR