SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
0.020 AlteredExpression disease BEFREE The pathological changes in the aortic wall of BAV patients were much less pronounced-apart from an increased expression of osteopontin (OPN) in the vascular wall which stem from smooth muscle cells, we observed a trend towards increased calcification of the aortic wall (increase significantly associated with age). 31561491 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
0.020 AlteredExpression disease BEFREE Two overexpressed genes in the TAV group, osteopontin (OPN) and tenascin C (TNC), were consistently more highly expressed in TAV aneurysms than in BAV aneurysms and normal aortas as determined by real-time reverse transcriptase quantitative polymerase chain reaction and immunohistochemistry. 17502243 2007