CASQ1, calsequestrin 1, 844

N. diseases: 34; N. variants: 6
Disease: Tubular Aggregate Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.320 Biomarker disease BEFREE Mutations in the reticular Ca<sup>2+</sup> buffer calsequestrin (CASQ1) have moreover been associated with the mild end of the TAM/Stormorken syndrome spectrum. 30243034 2018
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.320 GermlineCausalMutation disease ORPHANET CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. 29039140 2018
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.320 GermlineCausalMutation disease ORPHANET Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 28895244 2017
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.320 GeneticVariation disease BEFREE Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 28895244 2017