COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. 16691584 2006
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease CTD_human