| Disease ID | Source | Name | Description |
| 614483 | OMIM | Brain small vessel disease 2 (BSVD2) | An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. The disease is caused by variants affecting the gene represented in this entry. |
| 614519 | OMIM | Intracerebral hemorrhage (ICH) | A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Disease susceptibility is associated with variants affecting the gene represented in this entry. |