Details of Disease | DrugMAP

General Information of Disease (ID: DIS252DT)

Disease Name	Cholestasis, progressive familial intrahepatic, 8
Synonyms	PFIC8
Disease Hierarchy	DIS3J8HT: Progressive familial intrahepatic cholestasis DIS252DT: Cholestasis, progressive familial intrahepatic, 8
Disease Identifiers	MONDO ID MONDO_0030505 UMLS CUI C5562045 OMIM ID 619662 MedGen ID 1794255

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIF12	OTTALNDD	Strong	Autosomal recessive	[1]
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References

1	Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25.