COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 143; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 GeneticVariation group BEFREE Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy. 24443028 2014
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 Biomarker group BEFREE Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877 2014
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 GeneticVariation group BEFREE Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. 22075033 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 Biomarker group BEFREE Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity in between. 21496625 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 CausalMutation group CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 Biomarker group HPO