CCDC78, coiled-coil domain containing 78, 124093

N. diseases: 18; N. variants: 0
Disease: MYOPATHY, CENTRONUCLEAR, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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