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 |
|---|---|---|---|---|---|---|
| NPC1L1 | NPC1L1:c.1776G>A(p.Trp592*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more |
| NPC1L1:c.1801C>A(p.Arg601Arg) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.1810C>T(p.Gln604*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.212del(p.Leu71fs) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.2211del(p.Arg738fs) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.2407G>T(p.Glu803*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.2637+2T>G | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.2901C>A(p.Cys967*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.3973C>T(p.Arg1325*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.499C>T(p.Gln167*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more |