Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.010 GeneticVariation disease BEFREE A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. 21611149 2011