SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Lipoid Proteinosis of Urbach and Wiethe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023795
Disease: Lipoid Proteinosis of Urbach and Wiethe
Lipoid Proteinosis of Urbach and Wiethe 		0.010 GeneticVariation disease BEFREE We reported previously that unlike the BRICHOS misfolding SFTPC mutants, expression of hSP-C(I73T) induces lung remodeling and alveolar lipoproteinosis without a substantial Endoplasmic Reticulum (ER) stress response or ER-mediated intrinsic apoptosis. 21707890 2011