COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Disease: Skin Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.010 GeneticVariation group BEFREE Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis. 20882040 2011