CNN1, calponin 1, 1264

N. diseases: 36; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency
0.010 AlteredExpression disease BEFREE CD36 deficiency significantly decreased expression of Col1A1 (type 1 collagen A1 chain) and TGF-β1 (transforming growth factor beta 1), and increased expression of contractile proteins, including calponin 1 and smooth muscle α actin, and dramatically increased cell contraction. 30567481 2019