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 |
|---|---|---|---|---|---|---|
| LPA | LPA:c.5673A>G(p.Ile1891Met) | 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.5673A>G(p.Ile1891Met) | Expressivity | Risk factor | OR=1.92, 95% CI: 1.48 to 2.49) | Increased risk of cardiovascular diseasemore | more | |
| KCNH2 | KCNH2:c.2690A>C(p.Lys897Thr) | Expressivity | Risk factor | Gene activity study | KCNH2 polymorphism may modify the clinical expression of a latent LQT2 mutation and may contribute to the risk for sudden death in more prevalent cardiac diseases.more | more |
| HFE | HFE:c.187C>G(p.His63Asp) | Expressivity | Altered susceptibility | P-interaction = 0.03 for tibia and 0.02 for patella | The HFE H63D polymorphism, appears to enhance susceptibility to the deleterious impact of cumulative lead on PP, possibly via prooxidative or pro-inflammatory mechanisms.more | more |
| CFH | CFH:p.Tyr402His | Expressivity | Altered susceptibility | HR=0.67, 95% CI: 0.51-0.87; P=0.003 | The Y402H CFH variant was inversely associated with susceptibility to CVDmore | more |
| ALG10B | ALG10B:p.Glu33Asp | Penetrance | Altered incidence | From review article | Variant (E33D) diminished the ability of KCR1 to protect KCNH2 from inhibition by commonly used therapeutic agents and constitutes a risk factor for aLQTSmore | more |
| ALG10B:p.Ile447Val | Penetrance | Altered incidence | From review article | I447 V variant of KCR1 variant was more effective at protecting KCNH2 against dofetilide inhibition in a heterologous expression studymore | more |