COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Connective Tissue Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.310 GeneticVariation group BEFREE The associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip OA and LDD, making it a candidate for degenerative connective tissue diseases. 21159828 2011
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.310 Biomarker group GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002