Phenotypes of a rare hereditary thrombophilia

Antithrombin resistance is a rare subtype of hereditary thrombophilia caused by mutations in the prothrombin gene, which leads to thrombotic disorders. Recently, the Prothrombin Belgrade mutation has been reported as a specific mutation that leads to antithrombin resistance in two Serbian families with thrombosis. However, due to clinical data scarcity and the inapplicability of traditional genome-wide association studies (GWAS), a broader perspective on molecular and phenotypic mechanisms associated with the Prothrombin Belgrade mutation is yet to be uncovered. Here, we propose an integrative framework to deal with the lack of genomic samples and support the genomic signal by integrating it with patients' phenotypes and the genes' molecular interactions.