Name

CIRH1A Gene

cirrhosis, autosomal recessive 1A (cirhin)

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

PBC3 Gene

Biliary cirrhosis, primary, 3

PBC2 Gene

Biliary cirrhosis, primary, 2

PBC5 Gene

Biliary cirrhosis, primary, 5

PBC4 Gene

Biliary cirrhosis, primary, 4