Details of Disease | DrugMAP

General Information of Disease (ID: DISIIA6I)

Disease Name	Thrombophilia due to protein S deficiency, autosomal recessive
Synonyms	THPH6; thrombophilia due to PROTEIN S deficiency, autosomal recessive; thrombophilia 5 due to protein S deficiency, autosomal recessive; thrombophilia due to protein S deficiency, autosomal recessive
Disease Hierarchy	DISP7RXI: Hereditary thrombophilia due to congenital protein S deficiency DISIIA6I: Thrombophilia due to protein S deficiency, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0013791 UMLS CUI C3281092 OMIM ID 614514 MedGen ID 482722

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
PROS1	OTXQWNOI	Strong	Autosomal recessive	[1]
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References

1	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.