OAS1, 2'-5'-oligoadenylate synthetase 1, 4938

N. diseases: 72; N. variants: 11
Disease: Hypogammaglobulinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.010 GeneticVariation disease BEFREE We identified two additional de novo heterozygous missense variations of OAS1 in two unrelated simplex individuals also manifesting infantile-onset PAP with hypogammaglobulinemia. 29455859 2018