Cerebroretinal microangiopathy with calcifications and cysts
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) | C2677299 | CTC1 | Causal Pathogenic evidence from ClinVar | 22267198, 22387016, 23869908, 25182133 | ClinVar |
| STN1 | Causal Pathogenic evidence from ClinVar | 25957586 | ClinVar | ||
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | C4552029 | CTC1 | Causal Pathogenic evidence from ClinVar | 22267198, 22387016, 22532422, 22899577, 23869908, 24115768, 24357685, 29481669 | ClinVar |
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | C4479220 | STN1 | Causal Pathogenic evidence from ClinVar | 27432940 | ClinVar |