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 |
|---|---|---|---|---|---|---|
| AGTR1 | AGTR1:c.-1+658T>C | Expressivity | Altered severity | P=0.000042 | Associated with the development NAFLD or disease severity.more | more |
| AGTR1:c.-1+9939T>C | Expressivity | Altered severity | P=0.000047 | Associated with the development NAFLD or disease severity.more | more | |
| AGTR1:c.-85+2254T>C | Expressivity | Altered severity | P=0.001 | Associated with the development NAFLD or disease severity.more | more | |
| ADIPOR2 | ADIPOR2:c.650+20G>A | Expressivity | Altered severity | P=0.024 | Associated with the development NAFLD or disease severity.more | more |
| ADIPOQ | ADIPOQ:c.214+62G>T | Expressivity | Risk factor | From review article | Two SNPs (+45T>G of exon 2 and +276G>T of intron 2) were associated with the progression of liver fibrosis and insulin resistance in NAFLD Japanese patientsmore | more |
| ADIPOQ:c.45T>G(p.Gly15Gly) | Expressivity | Risk factor | From review article | Two SNPs (+45T>G of exon 2 and +276G>T of intron 2) were associated with the progression of liver fibrosis and insulin resistance in NAFLD Japanese patientsmore | more | |
| ADIPOQ:c.214+62G>T | Expressivity | Altered severity | P=0.0002 | Associated with the development NAFLD or disease severity.more | more | |
| ADIPOQ:c.45T>G(p.Gly15Gly) | Expressivity | Altered severity | P=0.03 | Associated with the development NAFLD or disease severity.more | more | |
| ABCC2 | ABCC2:c.3563T>A(p.Val1188Glu) | Expressivity | Risk factor | P=0.035 | Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty livermore | more |
| ABCC2:c.4544G>A(p.Cys1515Tyr) | Expressivity | Risk factor | P=0.037 | Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty livermore | more |