Episodic ataxia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| EPISODIC ATAXIA | AHNAK2 | Unknown | — | Disgenet | |
| CACNA1A | Unknown | — | Disgenet | ||
| CACNB4 | Unknown | — | Disgenet | ||
| KCNA1 | Unknown | — | Disgenet | ||
| SCN2A | Unknown | — | Disgenet | ||
| SLC1A3 | Unknown | — | Disgenet | ||
| TANGO2 | Unknown | — | Disgenet | ||
| EPISODIC ATAXIA TYPE 1 | KCNA1 | Causal | ClinGen ClinVar Disgenet GenCC Orphanet | ||
| EPISODIC ATAXIA TYPE 2 | CACNA1A | Causal | — | ClinVar GenCC | |
| EPISODIC ATAXIA TYPE 5 | CACNB4 | Unknown | CTD ClinVar Orphanet | ||
| EPISODIC ATAXIA TYPE 6 | SLC1A3 | Causal | ClinGen ClinVar GWAS catalog Orphanet | ||
| EPISODIC ATAXIA WITH SLURRED SPEECH | UBR4 | Unknown | — | Disgenet | |
| EPISODIC ATAXIA, TYPE 1 | KCNA1 | Unknown | — | CTD HPO | |
| EPISODIC ATAXIA, TYPE 2 | CACNA1A | Unknown | CTD Disgenet HPO | ||
| EPISODIC ATAXIA, TYPE 5 | CACNB4 | Unknown | — | CTD Disgenet HPO | |
| EPISODIC ATAXIA, TYPE 6 | SLC1A3 | Unknown | — | CTD Disgenet HPO | |
| EPISODIC ATAXIA, TYPE 9 | SCN2A | Causal | ClinVar Disgenet HPO Orphanet |