Aliases: OB, CAD11.
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 |
|---|---|---|
| Aneurysmal Bone Cyst | cooperating somatic |
mechanism: USP6 Promoter-Swap Rearrangement
|
| Elsahy-Waters Syndrome |
untyped
Causative
|
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 |
|---|---|---|---|
| Elsahy-Waters syndrome MONDO:0008885 | AR | Definitive 2024-05-17 |
Elsahy-Waters Syndrome
untyped
|
| Teebi hypertelorism syndrome 2 MONDO:0030674 | AD | Moderate 2024-05-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.