DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Limb-girdle muscular dystrophy, type 2E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.010 GeneticVariation disease BEFREE Limb-girdle muscular dystrophy type 2E (LGMD2E) results from mutations in the β-sarcoglycan (SGCB) gene causing loss of functional protein and concomitant loss of dystrophin-associated proteins. 26214262 2016