Disease: MYOPATHY, TUBULAR AGGREGATE, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.600 GeneticVariation disease UNIPROT ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 28058752 2017
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. 25227914 2015
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.600 GeneticVariation disease UNIPROT Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 24591628 2014
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.600 CausalMutation disease CLINVAR