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 |
|---|---|---|
| 8p Inverted Duplication Deletion Syndrome | untyped | |
| Familial Sleep-Related Hypermotor Epilepsy |
untyped
Causal nicotinic receptor subunit variant
|
mechanism: Inherited ADSHE gene architecture; Nicotinic acetylcholine receptor dysfunction
subtype: Type 4
|
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 |
|---|---|---|---|
| familial sleep-related hypermotor epilepsy MONDO:0000030 | AD | Limited 2020-12-25 |
|
| benign familial infantile epilepsy MONDO:0017615 | AD | Disputed 2020-01-07 |
Benign Familial Infantile Epilepsy
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.