Aliases: Kir4.1, Kir1.2.
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 |
|---|---|---|
| EAST Syndrome | causative |
mechanism: Kir4.1 Potassium Channel Loss of Function
|
| 3-Methylglutaconic Aciduria Type 9 | no genetic record |
mechanism: Neuronal Hyperexcitability
|
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 |
|---|---|---|---|
| EAST syndrome MONDO:0013005 | AR | Definitive 2023-06-29 |
EAST Syndrome
causative
|
| enlarged vestibular aqueduct syndrome MONDO:0023069 | AD | Disputed 2018-02-20 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.