ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200930463
rs200930463
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs200930463
rs200930463
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs587777240
rs587777240
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs587777240
rs587777240
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs587777241
rs587777241
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs587777241
rs587777241
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.800 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs587777241
rs587777241
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs587777242
rs587777242
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs587777242
rs587777242
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs200930463
rs200930463
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		G 0.800 CausalMutation CLINVAR
dbSNP: rs200930463
rs200930463
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777240
rs587777240
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777242
rs587777242
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		G 0.800 CausalMutation CLINVAR
dbSNP: rs77563738
rs77563738
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.710 CausalMutation CLINVAR This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype. 26867732 2016
dbSNP: rs77563738
rs77563738
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.710 GeneticVariation BEFREE This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype. 26867732 2016
dbSNP: rs77563738
rs77563738
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.710 CausalMutation CLINVAR Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency. 25888558 2015
dbSNP: rs77563738
rs77563738
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.710 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs77563738
rs77563738
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.710 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs202134424
rs202134424
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. 29951947 2018
dbSNP: rs2041144
rs2041144
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2231495
rs2231495
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2231495
rs2231495
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs139750129
rs139750129
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 28493328 2017
dbSNP: rs202134424
rs202134424
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 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
rs376785840
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 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