Disorder "Arrhythmia"
Found 37 records
Disorder information
Disorder name:
Arrhythmia
Disoder ID:
Definition:
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Modifier statisitcs
Record:
37
Gene:
15
Variant:
34
Reference:
3
Effect type:
Expressivity(37)
Modifier effect:
Risk factor(28)
,Altered severity(6)
,Altered current amplitude(2)
,Altered ectopic trigger and maintenance of AF(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KCNH2 | KCNH2:p.Arg1047Leu | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNH2:c.2690A>C(p.Lys897Thr) | Expressivity | Altered current amplitude | From review article | Coexpression of KCNH2-A1116V and KCNH2-K897T channels together resulted in significantly reduced current amplitudemore | more | |
| KCNE2 | KCNE2:p.Thr8Ala | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNE1 | KCNE1:c.253G>A(p.Asp85Asn) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNE1:c.121A>G(p.Ser41Gly) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more | |
| HCN4 | HCN4:p.Pro883Arg | Expressivity | Altered ectopic trigger and maintenance of AF | Assessment of genotype–phenotype associations and gene activity study | HCN4-P883R may increase ectopic trigger and maintenance of AF by shifting the activation voltage of If to more positive potentials and producing higher current density.more | more |
| GNB3 | GNB3:c.825C>T(p.Ser275Ser) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| GJA5 | GJA5:Promotor-44G>A/+77G>A | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| CASQ2 | CASQ2:c.196A>G(p.Thr66Ala) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| CASQ2:c.226G>A(p.Val76Met) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |