COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Myosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		0.310 GermlineCausalMutation disease ORPHANET 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: C1611706
Disease: Myosclerosis
Myosclerosis 		0.310 GeneticVariation disease 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