Aliases: FLJ20285, KIAA1575.
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 |
|---|---|---|
| Acute Erythroid Leukemia | cooperating somatic | |
| Oculofaciocardiodental Syndrome | causative germline |
mechanism: BCOR Loss of Function
|
| EBV-Associated Gastric Cancer |
untyped
Somatic Mutation
|
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 |
|---|---|---|---|
| microphthalmia, syndromic 2 MONDO:0010261 | XL | Definitive 2020-12-17 |
Oculofaciocardiodental Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.