Disorder "Primary Sclerosing Cholangitis"
Found 1 record
Disorder information
Disorder name:
Primary Sclerosing Cholangitis
Disoder ID:
OMIM entry:
Definition:
A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
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 |
|---|---|---|---|---|---|---|
| RSPO3 | RSPO3:n.127068983T>C | Expressivity | Risk factor | From review article | Variant rs853974 at the RSPO3 gene locus shown to modulate the course of PSCmore | more |
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