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: rs914839065
rs914839065
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.010 GeneticVariation BEFREE PCOS was not associated with G22A polymorphism whereas AA, AC, and CC genotypes of A4223C polymorphism were found distributed differently between the control and the PCOS women where the C allele showed a strong protective role for PCOS (odds ratio=1.876, p=0.033). 26980102 2016
dbSNP: rs1489114116
rs1489114116
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0343190
Disease:
Cutaneous polyarteritis nodosa 		0.010 GeneticVariation BEFREE In this report, we describe 2 white siblings (female and male) with a history of cPAN with DADA2 as a result of novel compound heterozygous mutations inherited in trans in the CECR1 gene (c.37_39del [p.K13del] and c.1159C>A [p.N328K]). 26131734 2015
dbSNP: rs767494439
rs767494439
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation BEFREE We explored lncRNAs profilings in PanIN cell line (SH-PAN) isolated from Pdx-1-Cre; LSL-Kras (G12D/+) mice and PDAC cell line (DT-PCa) isolated from Pdx-1-Cre; LSL- Kras (G12D/+) ; LSL- Tp53 (R172H/+) mice by lncRNAs microarray, and detected expression of lncRNAs and genes in PDAC by Real-time PCR, Western blot, ChIP and immunohistochemistry. 24469904 2015
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
dbSNP: rs775440641
rs775440641
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. 28522451 2017
dbSNP: rs148936893
rs148936893
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		A 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. 27059682 2016
dbSNP: rs376785840
rs376785840
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. 27252897 2016
dbSNP: rs5747035
rs5747035
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1285654
Disease:
Memory performance 		T 0.700 GeneticVariation GWASCAT Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. 25648963 2015
dbSNP: rs139750129
rs139750129
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
dbSNP: rs139750129
rs139750129
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 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 Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs376785840
rs376785840
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
dbSNP: rs1226708979
rs1226708979
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs146597836
rs146597836
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0004943
Disease:
Behcet Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568968051
rs1568968051
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR
dbSNP: rs202134424
rs202134424
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease:
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs587777241
rs587777241
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR
dbSNP: rs750868279
rs750868279
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0004943
Disease:
Behcet Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756881285
rs756881285
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0034150
Disease:
Purpura 		GC 0.700 CausalMutation CLINVAR