Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| 46,XY partial gonadal dysgenesis | unknown germline | |
| Agnathia-Otocephaly Complex | causative |
mechanism: OTX2 Loss of Function
animal model: Mouse (Mus musculus); Sheep (Ovis aries)
|
| Isolated Anophthalmia-Microphthalmia Syndrome | causative |
mechanism: Eye Field Transcription Factor Network Dosage Loss
|
| Microphthalmia with Coloboma |
untyped
Causal dominant variant (often de novo)
|
mechanism: Disrupted optic-cup and globe morphogenesis; Non-coding regulatory variant pathogenesis
subtype: OTX2-MAC
scoped to subtype: OTX2-MAC
|
| Pineoblastoma |
untyped
Copy-Number Gain
somatic
|
mechanism: OTX2 Copy-Number Gain
|
| Frias syndrome | no genetic record |
mechanism: 14q22-q23 contiguous gene deletion; OTX2 and SIX-region ocular-pituitary developmental disruption
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.