Details of Disease | DrugMAP

General Information of Disease (ID: DISMGYNC)

Disease Name	Obsolete familial hypercholanemia
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISMGYNC: Obsolete familial hypercholanemia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BAAT	DERA3OF	Supportive	Autosomal recessive	[1]
EPHX1	DELB4KP	Supportive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BAAT	OTTMB3JY	Supportive	Autosomal recessive	[1]
EPHX1	OTBKWQER	Supportive	Autosomal recessive	[2]
TJP2	OTQUY6BV	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. doi: 10.1038/ng1147.
2	Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. Biochim Biophys Acta. 2003 Jul 30;1638(3):208-16. doi: 10.1016/s0925-4439(03)00085-1.