Disorder "Nonalcoholic Fatty Liver Disease"
Found 120 records
Disorder information
Disorder name:
Nonalcoholic Fatty Liver Disease
Disoder ID:
OMIM entry:
Definition:
A fatty liver disease characterized by the storing of excess fat in liver cells which is is not caused by heavy alcohol use.
Modifier statisitcs
Record:
120
Gene:
58
Variant:
95
Reference:
12
Effect type:
Expressivity(116)
,Penetrance(4)
Modifier effect:
Altered severity(92)
,Risk factor(12)
,Altered incidence(4)
,Altered gene acitvity(2)
,Altered ALT levels(1)
,Altered susceptibility(1)
,Altered MTTP gene activity(1)
,Altered circulating levels of alanine transaminase(1)
,Altered diabetes risk(1)
,Altered disease progression(1)
,Altered expression of UCP3 mRNA(1)
,Altered intracellular lipid accumulation(1)
,Altered serum lipid levels and altered severity(1)
,Altered triglyceride levels(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IL6 | IL6:c.-174C>G | Expressivity | Altered severity | From review article | The IL-6 -174C variant was significantly more prevalent in NAFLD than in healthy subjects, was associated with increased fasting insulin and HOMA-IRmore | more |
| IL6:c.-174C>G | Expressivity | Altered severity | P=<0.01 | Associated with the development NAFLD or disease severity.more | more | |
| IFNL3 | IFNL3:c.-3180G>A | Expressivity | Altered severity | P=3.1×10(-9 ) | Associated with the development NAFLD or disease severity.more | more |
| IFNL3:c.209A>G(p.Lys70Arg) | Expressivity | Altered severity | From review article | It is associated with activation of the innate immune system against HCV infectionmore | more | |
| IFNL3:c.-3180G>A | Expressivity | Risk factor | From review article | The IL28B rs12979860 CC genotype was associated with about a four-fold increased risk of moderate-severe lobular inflammationmore | more | |
| HSD17B13 | HSD17B13:g.87292656A>G | Expressivity | Altered severity | P<0.005 | Associated with the development NAFLD or disease severity.more | more |
| HFE | HFE:c.77-206G>A | Expressivity | Altered severity | P=2.70×10(-8) | Associated with the development NAFLD or disease severity.more | more |
| HFE:c.187C>G(p.His63Asp) | Expressivity | Altered severity | P=0.005 | Associated with the development NAFLD or disease severity.more | more | |
| HFE:c.187C>G(p.His63Asp) | Expressivity | Risk factor | From review article | The C282Y and H63D mutations of the hemochromatosis (HFE) gene represent a common cause of inherited iron overload in individuals of European ancestrymore | more | |
| HFE:c.77-206G>A | Expressivity | Risk factor | From review article | The presence of the C282Y mutation was a risk factor for development of advanced hepatic fibrosis among US Caucasian patients with NASHmore | more |