ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.140 GeneticVariation group BEFREE The coding exons of ADA2 were sequenced in 60 children and adolescents with a diagnosis of PAN, cutaneous PAN, or unclassifiable vasculitis (UCV), any chronic vasculitis with onset at age 5 years or younger, or history of stroke. 31008556 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.140 Biomarker group BEFREE Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy. 28582318 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.140 AlteredExpression group BEFREE ADA2 activity levels tended to be lower in patients with stroke compared with patients without stroke. 26867732 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.140 GeneticVariation group BEFREE Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis. 24552284 2014
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.140 Biomarker group HPO