DisGeNET - a database of gene-disease associations

POLYARTERITIS NODOSA, CHILDHOOD-ONSET, C3887654

Variant: rs200930463 ×

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:

rs200930463

rs200930463

ADA2

0.800

GeneticVariation

UNIPROT

Early-onset stroke and vasculopathy associated with mutations in ADA2.

2014

dbSNP:

rs200930463

rs200930463

ADA2

0.800

GeneticVariation

UNIPROT

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

2014

dbSNP:

rs200930463

rs200930463

ADA2

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs200930463

rs200930463

ADA2

A

0.800

CausalMutation

CLINVAR