Aliases: KIAA0717, DBC2.
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 |
|---|---|---|
| RHOBTB2-Related Developmental and Epileptic Encephalopathy | causative | |
| 8p Inverted Duplication Deletion Syndrome | untyped |
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 |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2024-01-16 |
no dismech entry |
| complex neurodevelopmental disorder MONDO:0100038 | AR | Definitive 2024-01-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.