CCDC78, coiled-coil domain containing 78, 124093

N. diseases: 18; N. variants: 0
Disease: Centronuclear myopathy ×
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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.500 Biomarker disease CTD_human