Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.010 GeneticVariation disease BEFREE Mutations in the genes encoding the major fibrillar collagen types I and III have been demonstrated in EDS types VII and IV, respectively, while mutations in the lysyl hydroxylase and ATP7A genes, with roles in collagen cross-linking, are responsible for EDS types VI and IX. 8673139 1996