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 |
|---|---|---|---|---|---|---|
| CHUK | CHUK:c.1974+36T>G | Penetrance | Altered incidence | P=3.43×10(-6) | CHUK and ERLIN1, may have a protective interactionmore | more |
| CHUK:c.933+1251C>G | Penetrance | Altered incidence | P=3.07×10(-5) | CHUK and ERLIN1, may have a protective interactionmore | more | |
| CETP | CETP:c.-1700C>T | Expressivity | Altered severity | P=3.0×10(-4) | Associated with the development NAFLD or disease severity.more | more |
| CETP:c.234-894C>A | Expressivity | Altered severity | P=2.0×10(-4) | Associated with the development NAFLD or disease severity.more | more | |
| APOC3 | APOC3:c.-482C>T | Expressivity | Altered gene acitvity | From review article | Two common ApoC3 T-455C and C-482T promoter SNPs, which hamper the regulation of apolipoprotein C3 expression by insulin signalling via FOXO1 phosphorylationmore | more |
| APOC3:c.-501C>T | Expressivity | Altered severity | P=0.02 | Associated with the development NAFLD or disease severity.more | more | |
| APOC3:c.-528T>C | Expressivity | Altered severity | P=0.003 | Associated with the development NAFLD or disease severity.more | more | |
| APOC3:c.T-455C | Expressivity | Altered gene acitvity | From review article | Two common ApoC3 T-455C and C-482T promoter SNPs, which hamper the regulation of apolipoprotein C3 expression by insulin signalling via FOXO1 phosphorylationmore | more | |
| AGTR1 | AGTR1:c.-1+4440A>G | Expressivity | Altered severity | P=4.1×10(-6) | Associated with the development NAFLD or disease severity.more | more |
| AGTR1:c.-1+59A>G | Expressivity | Altered severity | P=6.5×10(-6) | Associated with the development NAFLD or disease severity.more | more |