Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE Previous studies have suggested that carriers of the ABCC6 mutations, particularly of p.R1141X, are at increased risk for coronary artery disease. 23807484 2013
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE A previous study demonstrated the association of the c.3421C>T mutation with CAD; however, the frequency found in the control population was unexpectedly high, contradicting, thus, the prevalence of PXE. 19929409 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene. 16854481 2007
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE Mutations in the ABCC6 gene could be linked to this disease and, just recently, the c.3421C>T mutation was also associated with a high risk of coronary artery disease. 14631379 2004
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE The presence of the R1141X mutation in the ABCC6 gene is associated with a sharply increased risk of premature CAD. 12176944 2002