Previous symbols: IRID2, IHG2, RIEG, RIEG1, RGS. Aliases: IGDS, RS, Brx1, Otlx2, ARP1.
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 |
|---|---|---|
| Atrial Fibrillation | susceptibility | |
| Congenital Glaucoma | causative germline |
mechanism: Neural Crest-Derived Periocular Mesenchyme Maldevelopment
subtype: ASD Congenital Glaucoma
scoped to subtype: ASD Congenital Glaucoma
|
| Axenfeld-Rieger_syndrome |
untyped
Pathogenic Variants
|
mechanism: Disrupted Neural Crest-Derived Periocular Mesenchyme Development; Dysregulated Transcription Factor Activity
subtype: Axenfeld-Rieger Syndrome Type 1 (RIEG1)
scoped to subtype: Axenfeld-Rieger Syndrome Type 1 (RIEG1)
|
| Primary_Ciliary_Dyskinesia | no genetic record |
mechanism: Loss of Asymmetric Flow-Sensing and Nodal Signaling
|
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 |
|---|---|---|---|
| anterior segment dysgenesis 4 MONDO:0007662 | AD | Definitive 2025-07-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.