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 |
|---|---|---|---|---|---|---|
| SLC27A5 | SLC27A5:c.-1324G>A | Expressivity | Altered ALT levels | From review article | The FATP5 promoter polymorphism rs56225452 seems to be associated with higher ALT levels, insulin resistance and dyslipidemia in the general population.more | more |
| SLC27A5:c.-1324G>A | Expressivity | Altered severity | P=0.02 | Associated with the development NAFLD or disease severity.more | more | |
| SERPINA1 | SERPINA1:c.863A>T(p.Glu288Val) | Expressivity | Altered severity | From review article | The most common being the PiZ (Glu342Lys) and PiS (Glu264Val) alleles,show a decreasing gradient from North to South in Europe, and potentially represent genetic modifiers of hepatocellular damage and inflammation.more | more |
| SERPINA1:p.Glu342Lys | Expressivity | Altered severity | From review article | The most common being the PiZ (Glu342Lys) and PiS (Glu264Val) alleles,show a decreasing gradient from North to South in Europe, and potentially represent genetic modifiers of hepatocellular damage and inflammation.more | more | |
| SAMM50 | SAMM50:c.1365-532G>A | Expressivity | Altered severity | P=6.4×10(-7) | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more |
| SAMM50:c.21+2633C>T | Expressivity | Altered severity | P=3.9×10(-6) | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more | |
| SAMM50:c.329A>G(p.Asp110Gly) | Expressivity | Altered severity | P=1.1×10(-6) | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more | |
| PZP | PZP:g.9218736C>T | Expressivity | Altered severity | P=0.000001 | Associated with the development NAFLD or disease severity.more | more |
| PPP1R3B | PPP1R3B:n.765+1333T>C | Expressivity | Altered severity | P=4.81×10(-8) | Associated with the development NAFLD or disease severity.more | more |
| PPP1R3B:n.765+418G>A | Expressivity | Altered severity | P=3.68×10(-18) | Associated with the development NAFLD or disease severity.more | more |