| Disease ID | Source | Name | Description |
| 614486 | OMIM | Thrombophilia due to thrombomodulin defect (THPH12) | A hemostatic disorder characterized by a tendency to thrombosis. The disease may be caused by variants affecting the gene represented in this entry. The role of thrombomodulin in thrombosis is controversial. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. |
| 612926 | OMIM | Hemolytic uremic syndrome atypical 6 (AHUS6) | An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. |