Septo-optic dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 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 |