ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Autoinflammatory disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.020 GeneticVariation disease BEFREE Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by autosomal recessive mutations in Cat Eye Syndrome Chromosome Region 1 (CECR1) gene. 30610243 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.020 Biomarker disease BEFREE The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. 28814775 2017