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 |
|---|---|---|---|---|---|---|
| PNPLA3 | PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Risk factor | Adjusted P=0.01 | The PNPLA3 I148M variant has a codominant negative effect on triglycerides mobilization from lipid droplets, mediated by inhibition of other lipases.more | more |
| PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Risk factor | P<0.05 | rs738409 as a strong modifier of the natural history of NAFLD in different populations around the world.more | more | |
| PLPPR4 | LPPR4:g.99317401C>A | Expressivity | Altered severity | P=4.82×10(-6) | Associated with the development NAFLD or disease severity.more | more |
| PEMT | PEMT:c.634G>A(p.Val212Met) | Expressivity | Altered severity | P<0.01–0.03 | Associated with the development NAFLD or disease severity.more | more |
| PEMT:c.634G>A(p.Val212Met) | Expressivity | Risk factor | OR=1.55, 95% CI: 1.14-2.11, P=0.005 | The rs7946 A-allele was associated significantly with an increased risk of NAFLDmore | more | |
| PEMT:c.634G>A(p.Val212Met) | Expressivity | Risk factor | From review article | Non-obese carriers of the Val175Met variant were at increased risk of NASHmore | more | |
| PDGFA | PDGFA:g.35515178C>T | Expressivity | Altered severity | P=3×10(-8) | Associated with the development NAFLD or disease severity.more | more |
| PARVB | PARVB:c.211+5145G>A | Expressivity | Altered severity | P=1.8×10(-12) | Associated with the development NAFLD or disease severity.more | more |
| NR1I2 | NR1I2:c.-22-579A>G | Expressivity | Altered severity | P=0.039 | Associated with the development NAFLD or disease severity.more | more |
| NR1I2:c.-22-5951T>C | Expressivity | Altered severity | P=0.039 | Associated with the development NAFLD or disease severity.more | more |