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Standards Ontologies Notations
protein C deficiency

Summary
Definition
A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
Super Class
autosomal dominant disease thrombophilia
Disease Ontology
DOID:3756
Mondo Disease Ontology
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Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5624 PROC protein C, inactivator of coagulation factors Va and VIIIa
Displaying 1 entry
Gene ID Gene Symbol Description Source
19123 Proc protein C
Displaying 1 entry
Gene ID Gene Symbol Description Source
25268 Proc protein C, inactivator of coagulation factors Va and VIIIa
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024