Ataxia with oculomotor apraxia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ATAXIA - INTELLECTUAL DISABILITY - OCULOMOTOR APRAXIA - CEREBELLAR CYSTS SYNDROME | LAMA1 | Causal | ClinVar GWAS catalog | ||
| ATAXIA - OCULOMOTOR APRAXIA TYPE 4 | PNKP | Causal | ClinVar GWAS catalog | ||
| ATAXIA WITH OCULOMOTOR APRAXIA TYPE 3 | PIK3R5 | Unknown | — | ClinGen ClinVar | |
| ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | APTX | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| PNKP | Causal | — | Disgenet | ||
| SETX | Causal | — | Disgenet | ||
| ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME | LAMA1 | Unknown | Orphanet | ||
| ATAXIA-OCULOMOTOR APRAXIA 3 | PIK3R5 | Unknown | — | CTD Disgenet HPO | |
| ATAXIA-OCULOMOTOR APRAXIA 4 | PNKP | Unknown | — | CTD Disgenet HPO | |
| ATAXIA-OCULOMOTOR APRAXIA TYPE 1 | APTX | Unknown | Orphanet | ||
| ATAXIA-OCULOMOTOR APRAXIA TYPE 4 | PNKP | Unknown | Orphanet |