| Disease ID | Source | Name | Description |
| 153670 | OMIM | Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) | A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. The disease is caused by variants affecting the gene represented in this entry. |
| 177820 | OMIM | Pseudo-von Willebrand disease (VWDP) | A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. The disease is caused by variants affecting the gene represented in this entry. |
| 231200 | OMIM | Bernard-Soulier syndrome (BSS) | A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. The disease is caused by variants affecting the gene represented in this entry. |
| 258660 | OMIM | Non-arteritic anterior ischemic optic neuropathy (NAION) | An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. Disease susceptibility is associated with variants affecting the gene represented in this entry. |