DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder), C1837728

Variant: rs281875284 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs281875284

VAPB

0.800

GeneticVariation

UNIPROT

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis.

22131369

2012

dbSNP:

rs281875284

VAPB

0.800

GeneticVariation

UNIPROT

Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.

20940299

2010

dbSNP:

rs281875284

VAPB

0.800

GeneticVariation

UNIPROT

Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).

16891305

2006

dbSNP:

rs281875284

VAPB

0.800

GeneticVariation

UNIPROT

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

15372378

2004

dbSNP:

rs281875284

VAPB

0.800

CausalMutation

CLINVAR