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 |
|---|---|---|---|---|---|---|
| ZP4 | ZP4:g.237940201C>T | Expressivity | Altered severity | P=0.000002 | Associated with the development NAFLD or disease severity.more | more |
| UCP3 | UCP3:c.-55C>T | Expressivity | Altered severity | P<0.05 | Associated with the development NAFLD or disease severity.more | more |
| UCP3:c.338-96C>T | Expressivity | Altered severity | P=0.03 | Associated with the development NAFLD or disease severity.more | more | |
| UCP3:c.-55C>T | Expressivity | Altered expression of UCP3 mRNA | From review article | A SNP in the UCP3 promoter (-55C>T, rs1800849) has been associated with increased expression of UCP3 mRNA in the skeletal muscle of Pima Indians as well as with body massmore | more | |
| TRIB1 | TRIB1:g.125469835A>G | Expressivity | Altered severity | P=2.3×10(-13) | Associated with the development NAFLD or disease severity.more | more |
| TNF | TNF:c.-1043C>A | Expressivity | Altered severity | P<0.01 | Associated with the development NAFLD or disease severity.more | more |
| TNF:c.-1211T>C | Expressivity | Altered severity | P<0.01 | Associated with the development NAFLD or disease severity.more | more | |
| TNF:c.-238G>A | Expressivity | Altered severity | P<0.0001 | Associated with the development NAFLD or disease severity.more | more | |
| TM6SF2 | TM6SF2:c.499G>A(p.Glu167Lys) | Expressivity | Altered circulating levels of alanine transaminase | P<0.05 | The TM6SF2 variant encoding p.Glu167Lys was also associated with higher circulating levels of alanine transaminase and is required for normal VLDL secretion and that impaired TM6SF2 function causally contributes to NAFLDmore | more |
| TM6SF2:c.499G>A(p.Glu167Lys) | Expressivity | Altered severity | From review article | The polymorphism is a powerful modifier in the development of Nonalcoholic fatty liver diseasemore | more |