Gene: COL5A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.110 GeneticVariation disease BEFREE We identified a novel COL5A1 N-propeptide acceptor-splice site mutation (IVS6-2A>G, NM_000093.3_c.925-2A>G) in a patient with cutaneous features of EDS, severe progressive scoliosis and eye involvement. 21611149 2011
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.110 Biomarker disease HPO