Disorder "Abnormality Of The Liver"
Found 3 records
Disorder information
Disorder name:
Abnormality Of The Liver
Disoder ID:
Definition:
An abnormality of the liver.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Risk factor(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PNPLA3 | PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Risk factor | OR=2.39, P=0.023 | The PNPLA3 p.I148M variant represents the most important prosteatotic genetic risk factormore | more |
| HFE | HFE:c.187C>G(p.His63Asp) | Expressivity | Risk factor | Gene activity study | The HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiencymore | more |
| HERPUD1 | HERPUD1:rs2217332 | Expressivity | Risk factor | Gene activity study | Contribute to liver damages progression associated with 1ATDmore | more |
Total 3,Each Page
,Jump To
Page