Previous symbols: CDSP. Aliases: OCTN2, SCD.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Primary Carnitine Deficiency | untyped |
mechanism: SLC22A5/OCTN2 transporter dysfunction
|
| Rosacea |
untyped
MR-supported druggable gene
|
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 |
|---|---|---|---|
| short QT syndrome MONDO:0000453 | AR | Disputed 2020-08-03 |
Short QT Syndrome
not named
|
| systemic primary carnitine deficiency disease MONDO:0008919 | AR | Definitive 2018-04-24 |
Primary Carnitine Deficiency
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.