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: C0009918
Disease: Contracture of joint
Contracture of joint
0.110 GeneticVariation phenotype BEFREE Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity. 12840783 2003
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
0.110 Biomarker phenotype HPO