Disorder "Biliary Atresia"
Found 1 record
Disorder information
Disorder name:
Biliary Atresia
Disoder ID:
OMIM entry:
Definition:
Atresia in the intrahepatic bile duct.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PNPLA3 | PNPLA3:c.444C>G(p.Ile148Met) | Expressivity | Risk factor | Mean 13.8 years; 95% confidence interval: 11.6-16.0 | The common I148M variant of the PNPLA3 gene is a risk factor for reduced survival.more | more |
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