COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: Congenital hereditary muscular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2937300
Disease: Congenital hereditary muscular dystrophy
Congenital hereditary muscular dystrophy 		0.200 Biomarker disease MGD COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. 23564457 2013