Aliases: EJM5.
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 |
|---|---|---|
| Childhood Absence Epilepsy | susceptibility germline |
mechanism: Aberrant Thalamic GABAergic Inhibition
|
| Developmental and Epileptic Encephalopathy 19 | causative de novo gain of functionloss of function |
mechanism: Gain-of-Function Shift in GABA Sensitivity and Desensitization; Loss-of-Function Reduction in GABA-A Receptor Current
|
| Juvenile Myoclonic Epilepsy | susceptibility germline |
mechanism: Genetic Susceptibility to JME
|
| Dravet_syndrome |
untyped
Rare Pathogenic Mutations
|
|
| Epilepsy |
untyped
Susceptibility
|
|
| Jeavons Syndrome |
untyped
Associated
|
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.
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.