Disorder "Abnormality Of The Cardiovascular System"
Found 17 records
Disorder information
Disorder name:
Abnormality Of The Cardiovascular System
Disoder ID:
Definition:
Any abnormality of the cardiovascular system.
Modifier statisitcs
Record:
17
Gene:
8
Variant:
13
Reference:
8
Effect type:
Expressivity(11)
,Penetrance(6)
Modifier effect:
Risk factor(8)
,Altered incidence(6)
,Altered susceptibility(2)
,Altered serum lipid levels and altered severity(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TM6SF2 | TM6SF2:c.499G>A(p.Glu167Lys) | Expressivity | Altered serum lipid levels and altered severity | P<0.05 | Carriers of the TM6SF2 E167K variant are more susceptible to progressive NASH, but are protected against cardiovascular disease.more | more |
PCSK9 | PCSK9:c.1341C>T(p.Ser447Ser) | Expressivity | Risk factor | From review article | Mutations in PCSK9 are associated with intracellular degeneration of LDL receptor.more | more |
PCSK9:c.94G>A(p.Glu32Lys) | Expressivity | Risk factor | From review article | Mutations in PCSK9 are associated with intracellular degeneration of LDL receptor.more | more | |
NOS3 | NOS3:c.894T>G(p.Asp298Glu) | Expressivity | Risk factor | HR=2.515, 95% CI1.060 - 5.965, P=0.036 | 894GT genotype is a risk factor for DN progression and 894TT genotype is a risk factor for major cardiovascular eventmore | more |
LPA | LPA:c.3947+467T>C | Penetrance | Altered incidence | Assessment of genotype–phenotype associations and gene activity study | The LPA finding via Mendelian randomization and confirm that these splice variants confer protection fromcardiovascular diseasemore | more |
LPA:c.3947+467T>C | Expressivity | Risk factor | Odds ratio of 1.70 (95% CI: 1.49 to 1.95) | Increased risk of cardiovascular diseasemore | more | |
LPA:c.4289+1G>A | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | Reduced risk of cardiovascular diseasemore | more | |
LPA:c.4289+1G>A | Penetrance | Altered incidence | Assessment of genotype–phenotype associations and gene activity study | The LPA finding via Mendelian randomization and confirm that these splice variants confer protection fromcardiovascular diseasemore | more | |
LPA:c.4974-2A>G | Expressivity | Risk factor | Assessment of genotype–phenotype associations and gene activity study | Reduced risk of cardiovascular diseasemore | more | |
LPA:c.4974-2A>G | Penetrance | Altered incidence | Assessment of genotype–phenotype associations and gene activity study | The LPA finding via Mendelian randomization and confirm that these splice variants confer protection fromcardiovascular diseasemore | more |