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 |
|---|---|---|---|---|---|---|
| ALOX5AP | ALOX5AP:c.*1874G>A | Expressivity | Risk factor | Hapb had a frequency of 6.9% and 8.2% in the group without and with chd, respectively, conferring a hazard ratio of 1.48 (95% ci 1.17-1.89, p=0.001) | The A allele of the rs9551963 polymorphism was associated with an increased risk of xanthomas, while the A allele of rs17222842 was protective.more | more |
| ALOX5AP:c.494+2385A>C | Expressivity | Risk factor | Hapb had a frequency of 6.9% and 8.2% in the group without and with chd, respectively, conferring a hazard ratio of 1.48 (95% ci 1.17-1.89, p=0.001) | The A allele of the rs9551963 polymorphism was associated with an increased risk of xanthomas, while the A allele of rs17222842 was protective.more | more | |
| ADRB3 | ADRB3:c.190T>C(p.Trp64Arg) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more |
| ADRB2 | ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more |
| ADRB2:c.79C>G(p.Gln27Glu) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more | |
| ADRB2:T164I | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more | |
| ADRB1 | ADRB1:c.145A>G(p.Ser49Gly) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more |
| ADRB1:c.1165G>C(p.Gly389Arg) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more |