Retinitis pigmentosa
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA | CRX | Causal | — | Disgenet | — | |
| PRPF8 | Causal | — | Disgenet | |||
| SNRNP200 | Unknown | — | Disgenet | |||
| AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA | ABCA4 | Causal | — | Disgenet | ||
| AGBL5 | Causal | — | Disgenet | — | ||
| ARL2BP | Causal | — | Disgenet | |||
| ARL6 | Causal | — | Disgenet | |||
| BBS2 | Causal | — | Disgenet | |||
| CERKL | Causal | — | Disgenet | — | ||
| CFAP418 | Causal | — | Disgenet | — | ||
| CNGB1 | Causal | — | Disgenet | |||
| CRB1 | Causal | — | Disgenet | |||
| DHX38 | Causal | — | Disgenet | |||
| DYNC2H1 | Causal | — | Disgenet | |||
| EYS | Causal | — | Disgenet | — | ||
| FAM161A | Causal | — | Disgenet | — | ||
| IMPG2 | Causal | — | Disgenet | — | ||
| LRAT | Causal | — | Disgenet | |||
| MERTK | Causal | — | Disgenet | |||
| NR2E3 | Causal | — | Disgenet | |||
| PCARE | Causal | — | Disgenet | — | ||
| PDE6A | Causal | — | Disgenet | |||
| PDE6B | Causal | — | Disgenet | |||
| PROM1 | Causal | — | Disgenet | |||
| RBP3 | Causal | — | Disgenet | |||
| REEP6 | Causal | — | Disgenet | |||
| RHO | Causal | — | Disgenet | |||
| RLBP1 | Causal | — | Disgenet | |||
| RP1 | Causal | — | Disgenet | — | ||
| RP1L1 | Causal | — | Disgenet | — | ||
| RPE65 | Causal | — | Disgenet | |||
| SPATA7 | Causal | — | Disgenet | — | ||
| TULP1 | Causal | — | Disgenet | — | ||
| USH2A | Causal | — | Disgenet | — | ||
| ZNF408 | Causal | — | Disgenet | — | ||
| ADGRA3 | Unknown | — | Disgenet | — | ||
| EMC1 | Unknown | — | Disgenet | — | ||
| PHF3 | Unknown | — | Disgenet | — | ||
| RETINITIS PIGMENTOSA | ABCA4 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | |||
| ADGRV1 | Causal | — | Disgenet | — | ||
| AGBL5 | Causal | Disgenet, GWAS catalog, Orphanet | — | |||
| AHI1 | Causal | Disgenet, GenCC, Orphanet | ||||
| AIPL1 | Causal | CTD, ClinVar, Disgenet, HPO | ||||
| ALMS1 | Causal | — | Disgenet | |||
| ARL2BP | Causal | Disgenet, GenCC, Orphanet | ||||
| ARL6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet | ||||
| BBS1 | Causal | Disgenet, Orphanet | ||||
| BBS10 | Causal | — | Disgenet | |||
| BBS12 | Causal | — | Disgenet | |||
| BBS2 | Causal | Disgenet, GWAS catalog, Orphanet | ||||
| BBS4 | Causal | — | Disgenet | |||
| BBS9 | Causal | — | Disgenet | |||
| BEST1 | Causal | Disgenet, Orphanet | ||||
| CERKL | Causal | Disgenet, GWAS catalog, Orphanet | — | |||
| CFAP418 | Causal | CTD, ClinVar, Disgenet, HPO, Orphanet | — | |||
| CNGB1 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| CRB1 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| CRX | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet | — | |||
| DHX38 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| EYS | Causal | CTD, Disgenet, GWAS catalog, Orphanet | — | |||
| FAM161A | Causal | Disgenet, GWAS catalog, Orphanet | — | |||
| IMPG2 | Causal | CTD, Disgenet, Orphanet | — | |||
| LRAT | Causal | CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet | ||||
| MERTK | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| NR2E3 | Causal | Disgenet, GWAS catalog, Orphanet | ||||
| PCARE | Causal | Disgenet, GWAS catalog, Orphanet | — | |||
| PDE6A | Causal | CTD, Disgenet, Orphanet | ||||
| PDE6B | Causal | CTD, Disgenet, GenCC, Orphanet | ||||
| PROM1 | Causal | Disgenet, GenCC, Orphanet | ||||
| PRPF8 | Causal | CTD, Disgenet, Orphanet | ||||
| RBP3 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet | ||||
| REEP6 | Causal | CTD, Disgenet, Orphanet | ||||
| RHO | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| RLBP1 | Causal | Disgenet, GWAS catalog, Orphanet | ||||
| RP1 | Causal | CTD, Disgenet, Orphanet | — | |||
| RPE65 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | ||||
| SNRNP200 | Causal | Disgenet, GWAS catalog, Orphanet | ||||
| SPATA7 | Causal | CTD, Disgenet, GWAS catalog, Orphanet | — | |||
| TULP1 | Causal | Disgenet, GWAS catalog, Orphanet | — | |||
| USH2A | Causal | CTD, Disgenet, Orphanet | — | |||
| ADGRA3 | Unknown | Disgenet, GWAS catalog | — | |||
| AHR | Unknown | Disgenet, GWAS catalog, Orphanet | ||||
| ARHGEF18 | Unknown | Disgenet, GWAS catalog, Orphanet | ||||
| PHF3 | Unknown | — | Disgenet | — | ||
| RP1L1 | Unknown | Disgenet, GWAS catalog, Orphanet | — | |||
| ZNF408 | Unknown | Disgenet, GWAS catalog, Orphanet | — | |||
| RETINITIS PIGMENTOSA 1 | RP1 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| ABCA4 | Unknown | — | CTD, Disgenet | |||
| ADGRA3 | Unknown | — | CTD | — | ||
| ADGRV1 | Unknown | — | CTD | — | ||
| AGBL5 | Unknown | — | CTD | — | ||
| AHI1 | Unknown | — | CTD | |||
| AHR | Unknown | — | CTD | |||
| AIPL1 | Unknown | — | CTD, Disgenet | |||
| ALMS1 | Unknown | — | CTD | |||
| ARHGEF18 | Unknown | — | CTD, Disgenet | |||
| ARL2BP | Unknown | — | CTD | |||
| ARL6 | Unknown | — | CTD, Disgenet | |||
| BBS1 | Unknown | — | CTD | |||
| BBS10 | Unknown | — | CTD | |||
| BBS12 | Unknown | — | CTD | |||
| BBS2 | Unknown | — | CTD | |||
| BBS4 | Unknown | — | CTD | |||
| BBS9 | Unknown | — | CTD | |||
| BEST1 | Unknown | — | CTD | |||
| CERKL | Unknown | — | CTD, Disgenet | — | ||
| CFAP418 | Unknown | — | CTD, Disgenet | — | ||
| CNGB1 | Unknown | — | CTD, Disgenet | |||
| CRB1 | Unknown | — | CTD, Disgenet | |||
| CRX | Unknown | — | CTD, Disgenet | — | ||
| DHX38 | Unknown | — | CTD, Disgenet | |||
| DYNC2H1 | Unknown | CTD | ||||
| EMC1 | Unknown | — | CTD | — | ||
| EYS | Unknown | — | CTD | — | ||
| FAM161A | Unknown | — | CTD | — | ||
| IMPG2 | Unknown | — | CTD | — | ||
| LRAT | Unknown | — | CTD, Disgenet | |||
| MERTK | Unknown | — | CTD, Disgenet | |||
| NR2E3 | Unknown | — | CTD | |||
| PCARE | Unknown | — | CTD | — | ||
| PDE6A | Unknown | — | CTD, Disgenet | |||
| PDE6B | Unknown | — | CTD, Disgenet | |||
| PROM1 | Unknown | — | CTD | |||
| PRPF8 | Unknown | — | CTD, Disgenet | |||
| RBP3 | Unknown | — | CTD, Disgenet | |||
| REEP6 | Unknown | — | CTD | |||
| RHO | Unknown | — | CTD, Disgenet | |||
| RLBP1 | Unknown | — | CTD, Disgenet | |||
| RP1L1 | Unknown | — | CTD | — | ||
| RPE65 | Unknown | — | CTD, Disgenet | |||
| SNRNP200 | Unknown | — | CTD, Disgenet | |||
| SPATA7 | Unknown | — | CTD, Disgenet | — | ||
| TULP1 | Unknown | — | CTD, Disgenet | — | ||
| USH2A | Unknown | — | CTD, Disgenet | — | ||
| ZNF408 | Unknown | — | CTD | — | ||
| RETINITIS PIGMENTOSA 12 | CRB1 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 13 | PRPF8 | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| CRB1 | Unknown | Disgenet | ||||
| RETINITIS PIGMENTOSA 14 | TULP1 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| PRPF8 | Unknown | — | Disgenet | |||
| RETINITIS PIGMENTOSA 19 | ABCA4 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 20 | RPE65 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 25 | EYS | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | — | ||
| PHF3 | Unknown | — | Disgenet | — | ||
| RETINITIS PIGMENTOSA 26 | CERKL | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| RETINITIS PIGMENTOSA 28 | FAM161A | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| RETINITIS PIGMENTOSA 33 | SNRNP200 | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| RETINITIS PIGMENTOSA 37 | NR2E3 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| RETINITIS PIGMENTOSA 38 | MERTK | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| RETINITIS PIGMENTOSA 39 | USH2A | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| RETINITIS PIGMENTOSA 4 | RHO | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| RETINITIS PIGMENTOSA 40 | PDE6B | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| RETINITIS PIGMENTOSA 41 | PROM1 | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| RETINITIS PIGMENTOSA 43 | PDE6A | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| RETINITIS PIGMENTOSA 45 | CNGB1 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 49 | CNGB1 | Unknown | Disgenet | |||
| RETINITIS PIGMENTOSA 50 | BEST1 | Causal | CTD, ClinVar, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 54 | PCARE | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| RETINITIS PIGMENTOSA 55 | ARL6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 56 | IMPG2 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| RETINITIS PIGMENTOSA 64 | CFAP418 | Causal | — | Disgenet | — | |
| RETINITIS PIGMENTOSA 66 | RBP3 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| RETINITIS PIGMENTOSA 72 | ZNF408 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| RETINITIS PIGMENTOSA 74 | BBS2 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 75 | AGBL5 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| RETINITIS PIGMENTOSA 77 | REEP6 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| RETINITIS PIGMENTOSA 78 | ARHGEF18 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 84 | DHX38 | Causal | ClinVar, Disgenet, HPO | |||
| RETINITIS PIGMENTOSA 85 | AHR | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| RETINITIS PIGMENTOSA 88 | RP1L1 | Causal | ClinVar, Disgenet, HPO | — | ||
| RETINITIS PIGMENTOSA 91 | ABCA4 | Unknown | — | Disgenet | ||
| CRX | Unknown | Disgenet | — | |||
| RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET | SPATA7 | Causal | — | Disgenet | — | |
| RETINITIS PIGMENTOSA, CONCENTRIC | BEST1 | Unknown | Disgenet | |||
| RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED | AIPL1 | Unknown | — | Disgenet | ||
| RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED | LRAT | Causal | — | Disgenet | ||
| RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED | SPATA7 | Unknown | — | Disgenet | — |