CCDC78, coiled-coil domain containing 78, 124093

N. diseases: 18; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.500 Biomarker disease CLINGEN Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 25635128 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.500 Biomarker disease CLINGEN Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C3553709
Disease: MYOPATHY, CENTRONUCLEAR, 4
MYOPATHY, CENTRONUCLEAR, 4 		0.500 Biomarker disease GENOMICS_ENGLAND Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C3553709
Disease: MYOPATHY, CENTRONUCLEAR, 4
MYOPATHY, CENTRONUCLEAR, 4 		0.500 Biomarker disease GENOMICS_ENGLAND Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C3553709
Disease: MYOPATHY, CENTRONUCLEAR, 4
MYOPATHY, CENTRONUCLEAR, 4 		0.500 GermlineCausalMutation disease ORPHANET Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C3553709
Disease: MYOPATHY, CENTRONUCLEAR, 4
MYOPATHY, CENTRONUCLEAR, 4 		0.500 Biomarker disease GENOMICS_ENGLAND Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.500 Biomarker disease CTD_human
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.300 Biomarker disease CTD_human
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.300 Biomarker disease CTD_human
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.300 Biomarker disease CTD_human
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.300 Biomarker disease CTD_human
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.300 Biomarker disease CTD_human
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.300 Biomarker disease CTD_human
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		0.300 Biomarker disease CTD_human
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.300 Biomarker disease CTD_human
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia 		0.100 Biomarker phenotype HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE Using a combination of linkage analysis, next-generation sequencing, and modeling in the zebrafish, we have identified a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores. 22818856 2012
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.010 GeneticVariation group BEFREE Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856 2012