| Disease ID | Source | Name | Description |
| 227400 | OMIM | Factor V deficiency (FA5D) | A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia. The disease is caused by variants affecting the gene represented in this entry. |
| 188055 | OMIM | Thrombophilia due to activated protein C resistance (THPH2) | A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis. The disease is caused by variants affecting the gene represented in this entry. |
| 601367 | OMIM | Ischemic stroke (ISCHSTR) | A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 614389 | OMIM | Pregnancy loss, recurrent, 1 (RPRGL1) | A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 600880 | OMIM | Budd-Chiari syndrome (BDCHS) | A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. Disease susceptibility is associated with variants affecting the gene represented in this entry. |