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
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		0.500 GermlineCausalMutation disease ORPHANET SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		0.500 Biomarker disease CTD_human
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.300 GermlineCausalMutation disease ORPHANET SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 Biomarker group BEFREE SPEG knockout has been previously associated with severe dilated cardiomyopathy in a mouse model. 25087613 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 Biomarker group HPO
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		0.100 Biomarker disease HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO