SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
0.510 Biomarker disease RGD Respiratory distress after intratracheal bleomycin: selective deficiency of surfactant proteins B and C. 11504697 2001
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
0.510 SusceptibilityMutation disease ORPHANET Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. 11063734 2000
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
0.510 Biomarker disease BEFREE Previous deaths were mistakenly attributed to hyaline membrane disease (HMD), congenital Mycoplasma hominis infection, and pulmonary hypertension, however, following the diagnosis in the proposita, SP-B deficiency was also confirmed in her deceased siblings by immunohistochemical staining of autopsy specimens. 11041444 2000