STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: MYOPATHY, TUBULAR AGGREGATE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 GeneticVariation disease UNIPROT 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 25953320 2015
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 GeneticVariation disease UNIPROT Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 24570283 2014
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 GeneticVariation disease UNIPROT Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 25326555 2014
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 GeneticVariation disease UNIPROT Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 23332920 2013
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 Biomarker disease GENOMICS_ENGLAND Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 23332920 2013
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 Biomarker disease GENOMICS_ENGLAND Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 23332920 2013
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.600 CausalMutation disease CLINVAR