Previous symbols: FKHL7, IRID1. Aliases: FREAC3, ARA, IGDA, IHG1.
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 Glaucoma | causative germline |
mechanism: Neural Crest-Derived Periocular Mesenchyme Maldevelopment
subtype: ASD Congenital Glaucoma
scoped to subtype: ASD Congenital Glaucoma
|
| Dandy-Walker Syndrome | causative germline |
mechanism: FOXC1-Dependent Posterior Fossa Mesenchymal Signalling Failure
animal model: Foxc1 hypomorphic mouse
|
| Axenfeld-Rieger_syndrome |
untyped
Pathogenic Variants
|
mechanism: Disrupted Neural Crest-Derived Periocular Mesenchyme Development
subtype: Axenfeld-Rieger Syndrome Type 3 (RIEG3)
scoped to subtype: Axenfeld-Rieger Syndrome Type 3 (RIEG3)
|
| Laryngotracheoesophageal Cleft |
untyped
Associated
|
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 |
|---|---|---|---|
| FOXC1-related anterior segment dysgenesis MONDO:0100235 | AD | Definitive 2021-11-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.