Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy, Congenital, Megaconial Type
0.100 GeneticVariation disease CLINVAR A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011
Muscular Dystrophy, Congenital, Megaconial Type
0.100 CausalMutation disease CLINVAR