DisGeNET - a database of gene-disease associations

POLYARTERITIS NODOSA, CHILDHOOD-ONSET, C3887654

Variant: rs376785840 ×

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:

rs376785840

ADA2

0.700

CausalMutation

CLINVAR

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

28983775

2017

dbSNP:

rs376785840

ADA2

0.700

CausalMutation

CLINVAR

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

27252897

2016

dbSNP:

rs376785840

ADA2

0.700

CausalMutation

CLINVAR

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

24552284

2014