ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Cutaneous polyarteritis nodosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343190
Disease: Cutaneous polyarteritis nodosa
Cutaneous polyarteritis nodosa 		0.030 Biomarker disease BEFREE We submit that, although literature is limited, a review of the data still suggests that LTA is distinct from cPAN and systemic PAN. 30044260 2019
CUI: C0343190
Disease: Cutaneous polyarteritis nodosa
Cutaneous polyarteritis nodosa 		0.030 AlteredExpression disease BEFREE Genetic screening and measurement of plasma levels of adenosine deaminase 2 should be considered for patients with uncommon systemic polyarteritis nodosa or early-onset cutaneous polyarteritis nodosa. 28547523 2017
CUI: C0343190
Disease: Cutaneous polyarteritis nodosa
Cutaneous polyarteritis nodosa 		0.030 GeneticVariation disease 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