Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 25577287

2015
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962

2015
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 24591628

2014
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 25044882

2014
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR A dominant STIM1 mutation causes Stormorken syndrome. 24619930

2014
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 CausalMutation CLINVAR Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 24570283

2014