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: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation disease ORPHANET The Genetic Landscape of Diamond-Blackfan Anemia. 30503522 2018