Previous symbols: C11orf19. Aliases: PAXNEB.
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 |
|---|---|---|
| Aniridia | causative germline |
mechanism: Deletion of the PAX6 Downstream Regulatory Region
subtype: Aniridia 2
scoped to subtype: Aniridia 2
|
| Self-Limited Epilepsy with Centrotemporal Spikes | susceptibility |
mechanism: Genetic Predisposition to Cortical Hyperexcitability
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246 | AD | Moderate 2023-11-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.