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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 —
All356 Causal128 Unknown350