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: rs756881285
rs756881285
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0023530
Disease:
Leukopenia 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs756881285
rs756881285
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs756881285
rs756881285
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0038002
Disease:
Splenomegaly 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs770689762
rs770689762
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0282492
Disease:
Sneddon Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775440641
rs775440641
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0282492
Disease:
Sneddon Syndrome 		C 0.700 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: 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