COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Osteochondritis Dissecans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans 		0.020 GeneticVariation disease BEFREE Mutations of the aggrecan (ACAN) and COL9A2 genes are associated with familial OCD, but these patients present with syndromic features. 26122666 2015
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans 		0.020 GeneticVariation disease BEFREE In this study we have identified COL9A2 mutations in two families with MED that also have osteochondritis dissecans and mild myopathy. 20358595 2010