rs139750129, ADA2

N. diseases: 1
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
0.700 CausalMutation CLINVAR Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 28493328 2017
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
0.700 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285 2014
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
0.700 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014