rs72653706, ABCC6

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE The patient with PXE was homozygous for the R1141X mutation in the ABCC6 gene. 23675997 2014
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes. 21831958 2011
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 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
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE More recently, missense mutations in the GGCX gene, either in compound heterozygous state or digenic with a recurrent ABCC6 nonsense mutation (p.R1141X), have been identified in patients with PXE-like cutaneous findings and vitamin K-dependent coagulation factor deficiency. 19054062 2009
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE The proband's mother and aunt, also manifesting with PXE-like skin changes, were heterozygous carriers of a missense mutation (p.V255M) in GGCX and a null mutation (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings. 18800149 2009
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE The most common mutation in our PXE cohort was the nonsense mutation p.R1141X, which occurred with an allele frequency of 25.9%. 16392638 2005
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE Carriers for the ABCC6 R1141X mutation, which is frequent and confers a high risk of premature coronary artery disease, do not commonly have skin or eye abnormalities consistent with a mild PXE phenotype. 15837081 2005
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE Our new c.3421C>T genotyping assays can be used for the rapid identification of this frequent mutation in PXE patients and of the recently newly proposed cardiac risk factor in young patients with myocardial infarcts of unknown origin. 14631379 2004
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE A specific founder effect for the R1141X mutation exists in Dutch patients with PXE. 12714611 2003
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE In the Netherlands, as in the rest of Europe, a particular premature truncation variant ABCC6 (R1141X) was found in a large cohort of PXE patients. 12176944 2002
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 GeneticVariation BEFREE In one large PXE pedigree for which we had identified a nonsense mutation (R1141X), we came across a G to A transition at position 3803 of the MRP6 cDNA sequence (R1268Q). 10913334 2000
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
0.800 CausalMutation CLINVAR
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.710 GeneticVariation BEFREE Here we investigated the association of the c.3421C>T loss-of-function mutation of ABCC6 and CAD and stroke. 19929409 2010
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.710 GeneticVariation BEFREE Our new c.3421C>T genotyping assays can be used for the rapid identification of this frequent mutation in PXE patients and of the recently newly proposed cardiac risk factor in young patients with myocardial infarcts of unknown origin. 14631379 2004
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.710 CausalMutation CLINVAR
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.710 CausalMutation CLINVAR
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
0.700 CausalMutation CLINVAR
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.700 CausalMutation CLINVAR
Papule
CUI: C0332563
Disease: Papule
0.700 CausalMutation CLINVAR
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
0.700 CausalMutation CLINVAR
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
0.700 CausalMutation CLINVAR
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
0.700 CausalMutation CLINVAR
Pseudoxanthoma Elasticum, Incomplete
0.700 CausalMutation CLINVAR
Arterial calcification
CUI: C1168153
Disease: Arterial calcification
0.700 CausalMutation CLINVAR
Hypoparathyroidism
CUI: C0020626
Disease: Hypoparathyroidism
0.700 CausalMutation CLINVAR