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 |
|---|---|---|---|---|---|---|
| PPARGC1A | PPARGC1A:c.1444G>A(p.Gly482Ser) | Expressivity | Altered severity | P=0.008 | Associated with the development NAFLD or disease severity.more | more |
| PPARGC1A:c.877+171A>C | Expressivity | Altered severity | P=<0.02 | Associated with the development NAFLD or disease severity.more | more | |
| PPARA | PPARA:c.680T>C(p.Val227Ala) | Expressivity | Altered severity | P=0.011 | Associated with the development NAFLD or disease severity.more | more |
| PPARA:c.680T>C(p.Val227Ala) | Expressivity | Altered severity | From review article | The Val227Ala SNP in the PPAR gene may be implicated in the pathogenesis of NAFLD and it could play a protective role against the development of obesitymore | more | |
| PNPLA3 | PNPLA3:c.1358G>T(p.Ser453Ile) | Expressivity | Altered severity | P=10(-10) | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more |
| PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Altered severity | P=0.0007 | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more | |
| PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Altered severity | From review article | The PNPLA3 rs738409 polymorphism is a strong determinant of hepatic fat accumulation and steatohepatitis, also influences steatosis and fibrosis progression in CHCmore | more | |
| PNPLA3:c.979+542T>G | Expressivity | Altered severity | P=5.9×10(-10) | DNA variations in PNPLA3 and SAMM50 may be correlated with nonalcoholic fatty liver diseasemore | more | |
| PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Altered disease progression | From review article | SNP rs738409 of the gene-like phospholipase domain-containing protein 3 (PNPLA3) was strongly associated with accumulation of fat and influence disease progression.more | more | |
| PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Altered intracellular lipid accumulation | Gene activity study | The PNPLA3 148M promotes intracellular lipid accumulation in the liver by reducing the lipidation of VLDL.more | more |