COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Dysspondyloenchondromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GeneticVariation disease BEFREE Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. 26250472 2015
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GermlineCausalMutation disease ORPHANET Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. 26250472 2015
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GeneticVariation disease BEFREE A novel heterozygous missense mutation in COL2A1 was recently identified in a patient with dysspondyloenchondromatosis. 24357493 2014
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis 		0.320 GermlineCausalMutation disease 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