ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 Biomarker disease BEFREE There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. 31043544 2020
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 GermlineCausalMutation disease ORPHANET We further identified rare mutations in seven previously unreported RP genes that may cause DBA, as well as several distinct disorders that appear to phenocopy DBA, including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2. 30503522 2018
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 Biomarker disease GENOMICS_ENGLAND We further identified rare mutations in seven previously unreported RP genes that may cause DBA, as well as several distinct disorders that appear to phenocopy DBA, including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2. 30503522 2018
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 Biomarker disease GENOMICS_ENGLAND Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 CausalMutation disease CLINVAR