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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 —
All72 Causal40 Unknown46