Gene: COL6A2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		0.110 CausalMutation phenotype CLINVAR