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 |
|---|---|---|---|---|---|---|
| HERPUD2 | HERPUD2:g.35509456C>T | Expressivity | Altered severity | P=2.7×10(-8) | Associated with the development NAFLD or disease severity.more | more |
| GCLC | GCLC:c.-594C>T | Expressivity | Altered severity | P=0.007 | Associated with the development NAFLD or disease severity.more | more |
| GCKR | GCKR:c.1337T>C(p.Leu446Pro) | Expressivity | Altered severity | P=0.011 | Associated with the development NAFLD or disease severity.more | more |
| GCKR:c.1337T>C(p.Leu446Pro) | Expressivity | Altered triglyceride levels | Assessment of genotype–phenotype associations and gene activity study | Loss-of-function GCKR mutation (rs1260326) encoding the P446L protein variant, leads to decreased circulating fasting glucose and insulin levels and increased hepatic fat accumulation by blocking fatty acid oxidationmore | more | |
| GCKR:c.1423-418T>C | Expressivity | Altered severity | P=0.012 | Associated with the development NAFLD or disease severity.more | more | |
| GCKR:c.1337T>C(p.Leu446Pro) | Expressivity | Altered severity | From review article | The rs2854116 SNP of Glucokinase regulator (GCKR), involved in the regulation of the uptake of monosaccharidesmore | more | |
| FDFT1 | FDFT1:c.201+739A>G | Expressivity | Altered severity | P=6.8×10(-7) | Associated with the development NAFLD or disease severity.more | more |
| ERLIN1 | ERLIN1:c.871A>G(p.Ile291Val) | Penetrance | Altered incidence | P=5.74×10(-6) | CHUK and ERLIN1, may have a protective interactionmore | more |
| ENPP1 | ENPP1:c.517A>C(p.Lys173Gln) | Expressivity | Altered severity | P<0.05 | Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty livermore | more |
| ENPP1:p.Lys121Gln | Expressivity | Altered diabetes risk | From review article | The ENPP1 Lys121Gln gain-of-function polymorphism is associated with an increased diabetes riskmore | more |