Previous symbols: BOR.
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 |
|---|---|---|
| EYA1-Related Branchiootorenal Spectrum Disorder | causative germline loss of function |
mechanism: EYA1 Haploinsufficiency; EYA1 Loss-of-Function Variant
subtype: BOR1; BOS1
|
| Intellectual Disability, Anterior Maxillary Protrusion, and Strabismus | no genetic record |
mechanism: Loss of SOBP Repression of SIX1+EYA Transcriptional Activity
|
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 |
|---|---|---|---|
| branchio-oto-renal syndrome MONDO:0007029 | AD | Definitive 2017-11-21 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.