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STIM1

stromal interaction molecule 1

HCNC Approved Symbol
STIM1 (HGNC:11386)
Genomic Coordinates
11:3,854,604 - 4,093,210 (11p15.4)
Synonyms
GOK, D11S4896E
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the STIM1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Myopathy
 2 (50.0%)
Muscle weakness
 1 (25.0%)
Myotonia
 1 (25.0%)
Paroxysmal dyskinesia
 1 (25.0%)
STIM1 - Gene browser | 3billion