Cone dystrophy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CONE DYSTROPHY | ABCA4 | Causal | — | Disgenet | ||
| ABHD12 | Causal | — | Disgenet | |||
| BBS5 | Causal | — | Disgenet | |||
| CABP4 | Causal | — | Disgenet | — | ||
| CDHR1 | Causal | — | Disgenet | — | ||
| CERKL | Causal | — | Disgenet | — | ||
| CFAP410 | Causal | — | Disgenet | — | ||
| CNGA3 | Causal | — | Disgenet | |||
| CRB1 | Causal | — | Disgenet | |||
| GNAT2 | Causal | Disgenet, GWAS catalog | ||||
| GUCY2D | Causal | — | Disgenet | |||
| KCNV2 | Causal | — | Disgenet | |||
| NMNAT1 | Causal | — | Disgenet | |||
| PDE6C | Causal | Disgenet, GWAS catalog | ||||
| PITPNM3 | Causal | — | Disgenet | |||
| PRPH2 | Causal | — | Disgenet | — | ||
| RAB28 | Causal | — | Disgenet | — | ||
| RPGR | Causal | — | Disgenet | — | ||
| RPGRIP1 | Causal | — | Disgenet | — | ||
| SRD5A3 | Causal | — | Disgenet | |||
| WDR19 | Causal | — | Disgenet | |||
| CONE DYSTROPHY 3 | GUCA1A | Causal | — | CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO | ||
| CONE DYSTROPHY 4 | PDE6C | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE | KCNV2 | Causal | GWAS catalog, Orphanet |