Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 GeneticVariation group BEFREE Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG). 26578207 2015