Disease Term Disease ID Gene Symbol References Source
SEPTO-OPTIC DYSPLASIA ARID1A Disgenet
ARNT2 Disgenet
FGFR1 Disgenet
HESX1 Disgenet
OTX2 Disgenet
PROKR2 Disgenet
RALGAPB Disgenet
SHH Disgenet
SOX2 Disgenet
SOX3 Disgenet
SEPTO-OPTIC DYSPLASIA SPECTRUM ARNT2 Orphanet
FGFR1 Orphanet
HESX1 Orphanet
OTX2 Orphanet
PROKR2 Orphanet
SOX2 Orphanet
SOX3 Orphanet
SEPTOOPTIC DYSPLASIA ARNT2 CTD
FGFR1 GWAS catalog
HESX1 GenCC HPO
OTX2 Disgenet
PROKR2 CTD
SOX2 ClinVar
SOX3 Disgenet
SEPTO-OPTIC DYSPLASIA SEQUENCE
HESX1 ClinVar