Leber congenital amaurosis
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| AMAUROSIS CONGENITA OF LEBER, TYPE 1 | CRB1 | Unknown | — | Disgenet | ||
| CRX | Unknown | — | Disgenet | — | ||
| GUCY2D | Unknown | — | CTD, Disgenet | |||
| LCA5 | Unknown | — | Disgenet | — | ||
| LRAT | Unknown | — | Disgenet | |||
| PROM1 | Unknown | — | Disgenet | |||
| RP1 | Unknown | — | Disgenet | — | ||
| RPGRIP1 | Unknown | — | Disgenet | — | ||
| TULP1 | Unknown | — | Disgenet | — | ||
| AMAUROSIS CONGENITA OF LEBER, TYPE 2 | RPE65 | Unknown | — | CTD, Disgenet | ||
| AMAUROSIS CONGENITA OF LEBER, TYPE 5 | LCA5 | Unknown | — | CTD | — | |
| AMAUROSIS CONGENITA OF LEBER, TYPE 9 | NMNAT1 | Unknown | — | CTD | ||
| LEBER CONGENITAL AMAUROSIS | ADAMTS18 | Unknown | — | Disgenet | ||
| CCT2 | Unknown | Disgenet, GWAS catalog | ||||
| DTHD1 | Unknown | — | Disgenet | — | ||
| FSCN2 | Unknown | — | Disgenet | — | ||
| GDF6 | Unknown | Disgenet, GWAS catalog, Orphanet | ||||
| GIGYF2 | Unknown | — | Disgenet | — | ||
| GPHN | Unknown | — | Disgenet | |||
| GUCA1B | Unknown | — | Disgenet | |||
| IFT140 | Unknown | ClinVar, Disgenet, Orphanet | ||||
| IMPDH1 | Unknown | CTD, Disgenet, Orphanet | ||||
| LRP5 | Unknown | — | Disgenet | |||
| MYO7A | Unknown | — | Disgenet | |||
| NBAS | Unknown | — | Disgenet | |||
| NPHP1 | Unknown | — | Disgenet | |||
| NPHP3 | Unknown | — | Disgenet | |||
| NPHP4 | Unknown | — | Disgenet | |||
| NXNL1 | Unknown | — | Disgenet, GenCC | — | ||
| PANK2 | Unknown | — | Disgenet | |||
| PCYT1A | Unknown | Disgenet, GWAS catalog, Orphanet | ||||
| PRPF31 | Unknown | — | Disgenet | |||
| PRPH2 | Unknown | Disgenet, GWAS catalog | — | |||
| RBP1 | Unknown | — | Disgenet | |||
| RIMS1 | Unknown | — | Disgenet | |||
| RLIG1 | Unknown | — | Disgenet | — | ||
| RPGR | Unknown | — | Disgenet | — | ||
| SLC38A8 | Unknown | — | Disgenet | — | ||
| TEAD3 | Unknown | — | Disgenet | |||
| TTC8 | Unknown | — | Disgenet | |||
| TUBB4B | Unknown | Disgenet, Orphanet | ||||
| USP45 | Unknown | Disgenet, GWAS catalog, Orphanet | ||||
| ZFYVE26 | Unknown | — | Disgenet | — | ||
| ZNF454 | Unknown | — | Disgenet | |||
| LEBER CONGENITAL AMAUROSIS 10 | RLIG1 | Unknown | — | Disgenet | — | |
| LEBER CONGENITAL AMAUROSIS 13 | GPHN | Unknown | — | Disgenet | ||
| ZFYVE26 | Unknown | — | Disgenet | — | ||
| LEBER CONGENITAL AMAUROSIS 16 | GIGYF2 | Unknown | — | Disgenet | — | |
| LEBER CONGENITAL AMAUROSIS 5 | POU1F1 | Unknown | — | Disgenet | ||
| LEBER CONGENITAL AMAUROSIS 6 | MKS1 | Unknown | — | Disgenet | ||
| LEBER CONGENITAL AMAUROSIS 7 | TPRX2 | Unknown | — | Disgenet | — |