MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Collagenopathy, type 2 alpha 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931073
Disease: Collagenopathy, type 2 alpha 1
Collagenopathy, type 2 alpha 1 		0.010 GeneticVariation disease BEFREE A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils. 20077500 2010