- Disease-causing germline mutation(s) in Chronic respiratory distress with surfactant metabolism deficiency
- Disease-causing germline mutation(s) in Desquamative interstitial pneumonia
- Disease-causing germline mutation(s) in Hereditary pulmonary alveolar proteinosis
- Major susceptibility factor in Idiopathic pulmonary fibrosis
- Major susceptibility factor in Infant acute respiratory distress syndrome
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