ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Familial Mediterranean Fever ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 Biomarker disease BEFREE We detected pathogenic or likely pathogenic variants compatible with the final diagnoses and inheritance patterns in 14/140 (10%) of patients for the following sAIDs: familial Mediterranean fever (n = 7), deficiency of adenosine deaminase 2 (n = 2), mevalonate kinase deficiency (n = 2), Muckle-Wells syndrome (n = 1), Majeed syndrome (n = 1), and STING-associated vasculopathy with onset in infancy (n = 1). 30783801 2019
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 Biomarker disease BEFREE Twelve (26%) of TR patients had monogenic disease (Familial Mediterranean Fever association (n = 7), deficiency of adenosine deaminase 2, DADA2, (n = 5). 30099592 2018