Disease: Pulmonary Alveolar Proteinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pulmonary Alveolar Proteinosis
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
0.010 GeneticVariation BEFREE We created iPS cells from two children with hereditary PAP (hPAP) caused by recessive CSF2RA(R217X) mutations and three normal people, differentiated them into macrophages (hPAP-iPS-Mφs and NL-iPS-Mφs, respectively), and evaluated macrophage functions with and without gene-correction to restore GM-CSF signaling in hPAP-iPS-Mφs. 24279752 2014