Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GermlineCausalMutation ORPHANET Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. 26250472

2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GermlineCausalMutation ORPHANET The identification of a novel heterozygous COL2A1 missense mutation (p.Gly753Asp) in the proband confirms our hypothesis and suggests that DSC may be another type II collagen disorder. 22570642

2011