Previous symbols: ERBAL3, TFCOUP1. Aliases: EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1.
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 |
|---|---|---|
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome | causative germline loss of function |
mechanism: NR2F1 functional insufficiency and variant-specific dominant-negative effects
animal model: Mouse
diagnosis: NR2F1 molecular genetic testing
|
| Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy | no genetic record |
mechanism: Cell-Type-Specific Methylome and Transcriptome Disruption
|
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 |
|---|---|---|---|
| Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0014320 | AD | Definitive 2022-02-16 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.