Disease: MYOPATHY, CENTRONUCLEAR, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. 30412272 2019
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei. 29614691 2018
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. 29474540 2018
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. 30157964 2018
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. 28624463 2017
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 GeneticVariation disease UNIPROT SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease GENOMICS_ENGLAND SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease CLINGEN Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice. 19118250 2009
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 CausalMutation disease CLINVAR