Previous symbols: RP4. Aliases: OPN2, CSNBAD1.
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 |
|---|---|---|
| Congenital Stationary Night Blindness | causative |
mechanism: Rod Phototransduction Cascade Defect (Riggs Arm)
subtype: CSNBAD1
scoped to subtype: Riggs
|
| Inherited Retinal Dystrophy |
untyped
Causative
|
|
| RHO-Related Retinopathy |
untyped
Causative
|
mechanism: Constitutive Rhodopsin Activation in Darkness; Rhodopsin Misfolding and ER Stress
treatment: QR-1123
|
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 |
|---|---|---|---|
| RHO-related retinopathy MONDO:0700380 | SD | Definitive 2025-01-02 |
RHO-Related Retinopathy
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.