| Disease ID | Source | Name | Description |
| 180000 | OMIM | Tortuosity of retinal arteries (RATOR) | A disease characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. The disease is caused by variants affecting the gene represented in this entry. |
| 611773 | OMIM | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries. The disease is caused by variants affecting the gene represented in this entry. |
| 269160 | OMIM | Schizencephaly (SCHZC) | Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. The disease is caused by variants affecting the gene represented in this entry. |
| 618564 | OMIM | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant (PADMAL) | A form of cerebral small vessel disease characterized by the recurrence of ischemic strokes starting in the thirties or forties, and associated with progressive imbalance and cognitive impairment. MRI examination shows ischemic lacunas in the pons and cerebral hemispheres, and diffuse leukoencephalopathy affecting various brain regions. The disease is caused by variants affecting the gene represented in this entry. Causative mutations affect a binding site for miR-29 microRNA located within the 3'UTR of COL4A1 and lead to an up-regulation of this gene. |
| 175780 | OMIM | Brain small vessel disease 1 with or without ocular anomalies (BSVD1) | An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid-filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies. 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. |