Previous symbols: CBBM, RCP, CBP. Aliases: COD5.
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 |
|---|---|---|
| Blue Cone Monochromacy | causative loss of function |
mechanism: Loss of Function of the OPN1LW/OPN1MW Opsin Gene Array
|
| Protan Color Vision Deficiency | causative germline loss of function |
mechanism: Absence of an Expressed L-Class Opsin Gene; Unequal Recombination in the Xq28 L/M Opsin Gene Array
subtype: Protanomaly; Protanopia
|
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 |
|---|---|---|---|
| red color blindness MONDO:0010565 | XL | Definitive 2025-09-04 |
Protan Color Vision Deficiency
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.