COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Diastrophic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.010 Biomarker disease BEFREE Her phenotype evolved with age into an intermediate phenotype between r-MED and DTD. 18553123 2008