MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Bicuspid aortic valve ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.010 Biomarker disease BEFREE Among these factors, dyslipidemia (i.e., high LDL cholesterol, high lipoprotein (a)) and the activation of specific pro-inflammatory pathways (nucleotide-binding oligomerization domain-like receptor containing pyrin domain 3 inflammasome and Toll-like receptor 4) appear to play a pivotal role in the progression of BAV-associated diseases. 30872037 2019