SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3872848
Disease: Chronic pneumonitis of infancy
Chronic pneumonitis of infancy
0.010 GeneticVariation disease BEFREE In this paper, we present the contribution of infant pulmonary function testing (iPFT) to the management of two infants with biopsy confirmed chronic pneumonitis of infancy due to surfactant protein C mutation. 25755194 2015