CCDC78, coiled-coil domain containing 78, 124093

N. diseases: 18; N. variants: 0
Disease: Congenital myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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