Details of Disease | DrugMAP

General Information of Disease (ID: DISOKUSB)

Disease Name	Sitosterolemia 1
Synonyms	STSL1; sitosterolemia 1
Disease Hierarchy	DISTCQGB: Sitosterolemia DISOKUSB: Sitosterolemia 1
Disease Identifiers	MONDO ID MONDO_0020747 MESH ID C537345 UMLS CUI C2749759 OMIM ID 210250 MedGen ID 440869

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCG5	TTKZ7WY	Strong	Biomarker	[1]
ABCG5	TTKZ7WY	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCG5	OT1OMY93	Definitive	Autosomal recessive	[2]
ABCG8	OTIJ76XW	Definitive	Autosomal recessive	[3]
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References

1	Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001 Jan;27(1):79-83. doi: 10.1038/83799.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3	Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000 Dec 1;290(5497):1771-5. doi: 10.1126/science.290.5497.1771.