Aliases: GOK, D11S4896E.
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 |
|---|---|---|
| STIM1 Deficiency | causative germline loss of function |
mechanism: Biallelic Loss-of-Function STIM1 Variants
|
| Kawasaki Disease |
untyped
Store-operated calcium entry component; variants alter SOCE leading to dysregulated Ca2+ signaling
|
mechanism: Immune Response Dysregulation
|
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 |
|---|---|---|---|
| tubular aggregate myopathy MONDO:0008051 | AD | Definitive 2021-04-01 |
no dismech entry |
| combined immunodeficiency due to STIM1 deficiency MONDO:0013008 | AR | Definitive 2025-08-21 |
STIM1 Deficiency
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.