ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.020 GeneticVariation disease BEFREE We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2. 29564582 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.020 Biomarker disease BEFREE Knockdown of a zebrafish ADA2 homologue caused intracranial hemorrhages and neutropenia - phenotypes that were prevented by coinjection with nonmutated (but not with mutated) human CECR1. 24552284 2014