COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Chondrosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.330 Biomarker disease BEFREE In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. 26345137 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.330 GeneticVariation disease BEFREE Combined with targeted resequencing of additional cartilaginous tumor cohorts, we identified somatic alterations of the COL2A1 gene, which encodes an essential extracellular matrix protein in chondroskeletal development, in 19.3% of chondrosarcoma and 31.7% of enchondroma cases. 25024164 2014
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.330 Biomarker disease CTD_human Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. 23770606 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.330 GeneticVariation disease BEFREE Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. 23770606 2013