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 |
|---|---|---|
| Microphthalmia with Coloboma | causative |
mechanism: Retinoic acid signaling disruption
subtype: MCOPCB10
scoped to subtype: MCOPCB10
|
| Progressive_Retinal_Dystrophy_Due_To_Retinol_Transport_Defect | causative |
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 |
|---|---|---|---|
| progressive retinal dystrophy due to retinol transport defect MONDO:0014060 | AR | Definitive 2026-03-05 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.