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

N. diseases: 72; N. variants: 11
Disease: Pulmonary alveolar proteinosis, congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931035
Disease: Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis, congenital 		0.300 GermlineCausalMutation disease ORPHANET Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. 29455859 2018