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 |
|---|---|---|---|---|---|---|
| TM6SF2 | TM6SF2:c.499G>A(p.Glu167Lys) | Expressivity | Altered serum lipid levels and altered severity | P<0.05 | Carriers of the TM6SF2 E167K variant are more susceptible to progressive NASH, but are protected against cardiovascular disease.more | more |
| TLR4 | TLR4:c.1196C>T(p.Thr399Ile) | Expressivity | Altered severity | From review article | The TLR4 T399I and D299G are two common, highly linked non-synonymous SNPs within the extracellular domain of TLR4 protein, which may affect the strength of interactions with either agonists and/or co-receptorsmore | more |
| TLR4:D299G | Expressivity | Altered severity | From review article | The TLR4 T399I and D299G are two common, highly linked non-synonymous SNPs within the extracellular domain of TLR4 protein, which may affect the strength of interactions with either agonists and/or co-receptorsmore | more | |
| TCF7L2 | TCF7L2:c.382-41435C>T | Expressivity | Altered severity | P=0.0001 | Associated with the development NAFLD or disease severity.more | more |
| STAT3 | STAT3:c.129-802A>G | Expressivity | Altered severity | P=0.021 | Associated with the development NAFLD or disease severity.more | more |
| STAT3:c.-23-7423T>G | Expressivity | Altered severity | P=0.02 | Associated with the development NAFLD or disease severity.more | more | |
| SOD2 | SOD2:c.47T>C(p.Ala16Val) | Expressivity | Altered severity | P=0.038 | Associated with the development NAFLD or disease severity.more | more |
| SOD2:c.47T>C(p.Ala16Val) | Penetrance | Altered incidence | From review article | Japanese patients with NASH had a higher incidence of the T/T SOD2 genotypemore | more | |
| SLC38A8 | SLC38A8:c.1163-58T>C | Expressivity | Altered severity | P=1.86×10(-6) | Associated with the development NAFLD or disease severity.more | more |
| SLC2A1 | SLC2A1:c.588G>C(p.Pro196Pro) | Expressivity | Altered severity | P=0.000912 | Associated with the development NAFLD or disease severity.more | more |