Aliases: COD1, DKFZP586E1519.
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 |
|---|---|---|
| COG4-Congenital Disorder of Glycosylation | causative germline |
mechanism: Biallelic COG4 dysfunction; Reduced COG4 Expression
variant: COG4 c.1647+5G>A
|
| Saul-Wilson Syndrome | causative de novo unknown |
mechanism: Recurrent COG4 p.Gly516Arg Substitution
|
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 |
|---|---|---|---|
| COG4-congenital disorder of glycosylation MONDO:0013281 | AR | Moderate 2023-05-17 |
|
| microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0019407 | AD | Definitive 2023-06-05 |
Saul-Wilson Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.