SLA2, Src like adaptor 2, 84174

N. diseases: 23; N. variants: 1
Disease: Pulmonary Alveolar Proteinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.020 GeneticVariation disease BEFREE In addition, pulmonary alveolar proteinosis is associated with mutations in CSF2RA, CSF2RB, and MARS, and specific auto-inflammatory forms of chILD implicate STING and COPA disorders. 29517585 2018
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.020 GeneticVariation disease BEFREE In this work, we analyzed the effect of the PAP-related mutations in MARS on the thermal stability and on the catalytic parameters of the MetRS mutants, relative to wild-type. 29775242 2018