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 |
|---|---|---|---|---|---|---|
| NNMT | NNMT:g.114133419C>T | Expressivity | Altered severity | P=0.051 | Associated with the development NAFLD or disease severity.more | more |
| NCAN | NCAN:c.274C>T(p.Pro92Ser) | Expressivity | Altered severity | P=5.29×10(-5) | Associated with the development NAFLD or disease severity.more | more |
| MTTP | MTTP:c.143-7574G>T | Expressivity | Altered MTTP gene activity | From review article | The G allele is associated with decreased MTTP transcriptionmore | more |
| MTTP:c.143-7245T>C | Expressivity | Altered severity | P=0.002 | Associated with the development NAFLD or disease severity.more | more | |
| MTTP:c.143-7574G>T | Expressivity | Altered severity | P=0.05 | Associated with the development NAFLD or disease severity.more | more | |
| MTTP:c.464T>C(p.Ile155Thr) | Expressivity | Altered severity | P=0.05 | Associated with the development NAFLD or disease severity.more | more | |
| MBOAT7 | MBOAT7:c.50G>C(p.Gly17Ala) | Expressivity | Altered susceptibility | OR=1.65, 95% CI: 1.08-2.55; n=765 | The MBOAT7 rs641738 T allele is associated with reduced MBOAT7 expression and may predispose to HCC in patients without cirrhosismore | more |
| LYPLAL1 | LYPLAL1:g.219275036C>T | Expressivity | Altered severity | P=4.12×10(-5) | Associated with the development NAFLD or disease severity.more | more |
| LPIN1 | LPIN1:c.869+1070C>T | Expressivity | Altered severity | P<0.01 | Associated with the development NAFLD or disease severity.more | more |
| LPIN1:c.869+1070C>T | Expressivity | Altered severity | From review article | The LPIN1 rs13412852 C>T polymorphism was associated with NASH and the TT genotype was underrepresented in pediatric but not in adult patients with NAFLDmore | more |