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 |
|---|---|---|---|---|---|---|
| LEPR | LEPR:c.2673+1118C>T | Expressivity | Altered severity | P=0.0001 | Associated with the development NAFLD or disease severity.more | more |
| LEPR:c.326A>G(p.Lys109Arg) | Expressivity | Altered severity | P=0.003 | Associated with the development NAFLD or disease severity.more | more | |
| LEPR:c.668A>G(p.Gln223Arg) | Expressivity | Altered severity | P=0.013 | Associated with the development NAFLD or disease severity.more | more | |
| LCP1 | LCP1:c.1752-1284C>T | Expressivity | Altered severity | P=2.96×10(-6) | Associated with the development NAFLD or disease severity.more | more |
| KLF6 | KLF6:c.103-27G>A | Expressivity | Altered severity | From review article | The KLF6 IVS1-27G>A SNP regulating alternative splicing isoforms of the transcription factor KLF6 involved in the regulation of the regulation of metabolism in hepatocytes and fibrogenesis in hepatic stellate cellsmore | more |
| KLF6:c.103-27G>A | Expressivity | Altered severity | P=4.0×10(-3) | Associated with the development NAFLD or disease severity.more | more | |
| IRS1 | IRS1:c.2911G>A(p.Gly971Arg) | Expressivity | Altered severity | P<0.05 | Associated with the development NAFLD or disease severity.more | more |
| IRS1:c.2911G>A(p.Gly971Arg) | Expressivity | Risk factor | From review article | The loss-of-function Gly972Arg SNP increases the risk of IR and diabetesmore | more | |
| Intergenic | Intergenic:g.100035604T>G | Expressivity | Altered severity | P=2.9×10(-8) | Associated with the development NAFLD or disease severity.more | more |
| Intergenic:g.100101678G>A | Expressivity | Altered severity | P=4×10(-9) | Associated with the development NAFLD or disease severity.more | more |