Previous symbols: MTCYB. Aliases: COB, CYTB, UQCR3.
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 |
|---|---|---|
| Histiocytoid Cardiomyopathy | causative germline |
mechanism: Mitochondrial Respiratory Chain Subunit Defect
|
| Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome | causative germline |
mechanism: Large-Scale Mitochondrial DNA Duplication
|
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 |
|---|---|---|---|
| mitochondrial disease MONDO:0044970 | MT | Definitive 2024-03-04 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.