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STIM1 - stromal interaction molecule 1

Synonym(s) : D11S4896E, GOK
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 11p15.4
OMIM: 605921
HGNC: 11386
UniProtKB: Q13586
Genatlas: STIM1
GenCC: STIM1
Ensembl: ENSG00000167323
IUPHAR-DB: -
Reactome: Q13586
LOVD: STIM1

Diseases list

Disease-causing germline mutation(s) in Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
Disease-causing germline mutation(s) (gain of function) in Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
Disease-causing germline mutation(s) (gain of function) in Tubular aggregate myopathy ORPHA:2593

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (66)

Research activities on this gene

Specialised Social Services

Eurordis directory

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