COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Arthropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.120 GeneticVariation group BEFREE Similarly, it is under-acknowledged that COL2A1 mutations may solely cause joint disease in the absence of the other mentioned phenotypic clues. 21332586 2012
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.120 GeneticVariation group BEFREE To test for the reexpression of the chondroprogenitor splice variant of the gene COL2A1, type IIA procollagen (containing a cysteine-rich NH2 propeptide), in adult articular chondrocytes in osteoarthritic (OA) joint disease. 10403272 1999
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.120 Biomarker group HPO