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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SEPTO-OPTIC DYSPLASIA ARID1A Unknown — Disgenet
ARNT2 Unknown — Disgenet
FGFR1 Unknown — Disgenet
HESX1 Unknown — Disgenet
OTX2 Unknown — Disgenet —
PROKR2 Unknown — Disgenet
RALGAPB Unknown — Disgenet
SHH Unknown — Disgenet
SOX2 Unknown — Disgenet
SOX3 Unknown — Disgenet
SEPTO-OPTIC DYSPLASIA SEQUENCE
HESX1 Causal — ClinVar
SEPTO-OPTIC DYSPLASIA SPECTRUM ARNT2 Unknown Orphanet
FGFR1 Unknown Orphanet
HESX1 Unknown Orphanet
OTX2 Unknown Orphanet —
PROKR2 Unknown Orphanet
SOX2 Unknown Orphanet
SOX3 Unknown Orphanet
SEPTOOPTIC DYSPLASIA ARNT2 Unknown CTD
FGFR1 Unknown GWAS catalog
HESX1 Unknown — GenCC, HPO
OTX2 Unknown Disgenet —
PROKR2 Unknown CTD
SOX2 Unknown ClinVar
SOX3 Unknown Disgenet
All10 Causal1 Unknown10