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: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.300 Biomarker disease GENOMICS_ENGLAND Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. 29564582 2018