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:
Variant:
13 
Reference:
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
Total 17,Each Page
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