Aliases: hUNC18, MUNC18-1, UNC18, rbSec1, nSec1.
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 |
|---|---|---|
| Autosomal Dominant Non-Syndromic Intellectual Disability | causative de novo |
mechanism: Disrupted Synaptic Transmission and Plasticity
|
| Early-Infantile Developmental and Epileptic Encephalopathy | causative de novo | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
|
| Dravet_syndrome |
untyped
Rare Pathogenic Mutations
|
|
| STXBP1 Encephalopathy |
untyped
Loss-of-Function Mutations
germline
|
diagnosis: STXBP1 Molecular Diagnosis
discussion: (unnamed)
|
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 2017-10-20 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.