COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group BEFREE Abnormal transferrin pattern were observed in a patient with a myopathy due to a COL6A2 gene variant. 30397276 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group BEFREE The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. 24134684 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group BEFREE Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy. 22992134 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group BEFREE Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. 20302629 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group LHGDN This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects. 18852439 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group BEFREE This familial case has the characteristic features of myosclerosis myopathy and carries a homozygous COL6A2 mutation responsible for a peculiar pattern of collagen VI defects. 18852439 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group LHGDN Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. 12374585 2002
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation group CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 Biomarker group HPO