DisGeNET - a database of gene-disease associations

BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3, 388552

N. diseases: 32; N. variants: 14

Disease: Alzheimer's Disease ×

Variant: rs12463049 ×

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:

rs12463049

rs12463049

Entrez Id:	57787;388552
Gene Symbol:	MARK4;BLOC1S3

MARK4;BLOC1S3

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASCAT

GWAS on family history of Alzheimer's disease.

2018