In the knowledge base ยท computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Epilepsy with Myoclonic-Atonic Seizures causative germline
mechanism: Genetic Susceptibility to Doose Syndrome
Epilepsy untyped
Causative
SLC6A1-Related Neurodevelopmental Disorder untyped
Loss-of-Function Variants
germline
mechanism: SLC6A1 Variant and GAT-1 Loss of Function
diagnosis: SLC6A1 Molecular Diagnosis
discussion: (unnamed)

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.