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
|
| GABRB3-Related Developmental and Epileptic Encephalopathy | causative de novo |
mechanism: GABRB3 Variant and Beta-3 Subunit Dysfunction
animal model: Mus musculus
|
| 15q11q13 Microduplication Syndrome |
untyped
Duplicated GABA-A receptor subunit gene in the 15q11.2-q13.1 region
|
mechanism: GABAA-receptor-associated beta oscillations
|
| Angelman Syndrome |
untyped
Modifier (deletion subtype)
|
mechanism: GABA-A receptor cluster hemizygosity in deletion subtype
|
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 |
|---|---|---|---|
| genetic developmental and epileptic encephalopathy MONDO:0100062 | AD | Definitive 2019-02-05 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.