CCDC40, coiled-coil domain containing 40, 55036

N. diseases: 49; N. variants: 29
Disease: Generalized glycogen storage disease of infants ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 GeneticVariation disease BEFREE We report the first complex deletion-insertion encompassing the complete structure of GAA gene and a large fragment of the gene CCDC40 in a patient with very severe form of Pompe disease. 23402890 2013