SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Hay-Wells syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.010 GeneticVariation disease BEFREE We have previously shown that targeting the type II alveolar epithelium for injury by repetitively administering diphtheria toxin to transgenic mice expressing the diphtheria toxin receptor off of the surfactant protein C promoter (SPC-DTR) develop lung fibrosis, confirming that AEC injury is sufficient to cause fibrosis. 30333529 2018