COL9A3, collagen type IX alpha 3 chain, 1299

N. diseases: 125; N. variants: 9
Disease: Oculoskeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		0.020 GeneticVariation disease BEFREE In conclusion, a nonsense variant in COL9A3 is strongly associated with OSD in NID, and appears to be widespread in this breed. 31415586 2019
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		0.020 GeneticVariation disease BEFREE COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. 20686772 2010