Disorder "Coronary Artery Disease"
Found 48 records
Disorder information
Disorder name:
Coronary Artery Disease
Disoder ID:
OMIM entry:
OMIM:300464
,OMIM:607339
,OMIM:608316
,OMIM:608318
,OMIM:608320
,OMIM:610947
,OMIM:611139
,OMIM:612030
,OMIM:614293
Synonyms:
CHD,Coronary disease,coronary arteriosclerosis,coronary heart disease
Definition:
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Modifier statisitcs
Record:
48
Gene:
13
Variant:
39
Reference:
11
Effect type:
Expressivity(46)
,Penetrance(2)
Modifier effect:
Risk factor(33)
,Altered circulating level(4)
,Altered plasma levels of LDL cholesterol(4)
,Altered triglyceride level(4)
,Altered incidence(2)
,Altered endothelial NO bioactivity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| APOC3 | APOC3:A43T | Expressivity | Altered triglyceride level | P<1×10(-20) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more |
| APOC3:c.IVS2+1G>A | Expressivity | Risk factor | OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:c.IVS2+1G>A | Expressivity | Altered circulating level | P=8×10(-10) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:c.IVS2+1G>A | Expressivity | Altered triglyceride level | P<1×10(-20) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:c.IVS3+1G>T | Expressivity | Risk factor | OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:c.IVS3+1G>T | Expressivity | Altered circulating level | P=8×10(-10) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:c.IVS3+1G>T | Expressivity | Altered triglyceride level | P<1×10(-20) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:R19X | Expressivity | Risk factor | OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:R19X | Expressivity | Altered circulating level | P=8×10(-10) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more | |
| APOC3:R19X | Expressivity | Altered triglyceride level | P<1×10(-20) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more |