DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		0.310 Biomarker disease BEFREE Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), and more recently for LGMD1F (transportin-3). 24647604 2014
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		0.310 GermlineCausalMutation disease ORPHANET Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 22275259 2012