COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
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
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.110 Biomarker disease HPO