Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.760 GermlineCausalMutation ORPHANET Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		0.760 GermlineCausalMutation ORPHANET Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome 		0.710 GermlineCausalMutation ORPHANET Mutant ADA2 in vasculopathies. 25075847

2014
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome 		0.710 GermlineCausalMutation ORPHANET Sneddon's syndrome: a comprehensive review of the literature. 25551694

2014
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.610 GermlineCausalMutation 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
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation ORPHANET The Genetic Landscape of Diamond-Blackfan Anemia. 30503522

2018