ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Vascular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.050 AlteredExpression group BEFREE These are stimulators of interferon genes (STING)-associated vasculopathy of infancy (SAVI), which is a monogenic defect associated with excessive activity in interferon alpha and deficiency of adenosine deaminase 2, which is characterized by a polyarteritis nodosa-like picture. 30552566 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.050 Biomarker group BEFREE Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. 29271561 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.050 GeneticVariation group BEFREE Identification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency. 24737293 2014
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.050 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: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.050 Biomarker group BEFREE Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014