Cerebroretinal microangiopathy with calcifications and cysts
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS | CTC1 | Unknown | — | CTD | |
| STN1 | Unknown | — | CTD | ||
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | CTC1 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| PFAS | Unknown | — | Disgenet | ||
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | STN1 | Causal | ClinGen ClinVar Disgenet HPO | ||
| CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 | POT1 | Causal | — | ClinVar Disgenet GenCC HPO |