Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary immune deficiency disorder
CUI: C0398686
Disease: Primary immune deficiency disorder
0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 GeneticVariation CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011