COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Multiple Epiphyseal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.410 Biomarker disease BEFREE Recombination between COL2A1 and MED was observed, ruling out COL2A1 as the site of the mutation. 8094597 1993
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.410 Biomarker disease CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.410 GeneticVariation disease CLINVAR