Disorder "Familial Combined Hyperlipidemia"
Found 22 records
Disorder information
Disorder name:
Familial Combined Hyperlipidemia
Disoder ID:
OMIM entry:
Definition:
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES.
Modifier statisitcs
Record:
22
Gene:
2
Variant:
12
Reference:
1
Effect type:
Expressivity(22)
Modifier effect:
Risk factor(14)
,Altered level of HDL-C(2)
,Altered leverl of plasma free fatty acids(2)
,Altered onset time(2)
,Atlered level of triglycerides(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PNPLA2 | PNPLA2:c.1367C>T(p.Pro456Leu) | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more |
| PNPLA2:c.1367C>T(p.Pro456Leu) | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.1442T>C(p.Leu481Pro) | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.1367C>T(p.Pro456Leu) | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.C3721C | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.C5888C | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.C5888T | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.T3721C | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.T3721T | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more | |
| PNPLA2:c.T5888T | Expressivity | Risk factor | PNPLA2 haplotypes were associated with lower risk of FCHL. | These data demonstrate that variants within PNPLA2 may modulate the TG component of FCHL trait, thus implicating PNPLA2 as modifier gene in this lipid disorder.more | more |