COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 Biomarker disease BEFREE Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. 28918041 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 GeneticVariation disease LHGDN Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 GeneticVariation disease LHGDN Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 GeneticVariation disease LHGDN Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 12011280 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 GeneticVariation disease LHGDN Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 11992252 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.150 Biomarker disease HPO