COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. 20358595 2010
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease CTD_human
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 CausalMutation disease CLINVAR
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 GeneticVariation group BEFREE In conclusion, our results suggest that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population. 28002589 2016
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 GeneticVariation group BEFREE The allelic variants in the collagen IX genes - COL9A2 (Trp2) and COL9A3 (Trp3) have been identified as genetic risk factors for IDD, because they interfere the cross-linking between collagen types II, IX and XI and result in decreased stability of intervertebral discs. 24636772 2014
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 Biomarker group GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 Biomarker group GENOMICS_ENGLAND Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. 20358595 2010
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 GeneticVariation group BEFREE To determine the contribution of COL9A2 and COL9A3 Tryptophan polymorphisms to intervertebral disc disease development in a genetically heterogeneous, Southern European population compared to previous Finnish studies. 15167667 2004
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 Biomarker group BEFREE COL9A2 allelotypes in intervertebral disc disease. 11118298 2000
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 GeneticVariation group UNIPROT The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease. 10411504 1999
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 GeneticVariation group BEFREE The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease. 10411504 1999
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.550 Biomarker group GENOMICS_ENGLAND
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease GENOMICS_ENGLAND Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. 20358595 2010
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		0.500 Biomarker disease CTD_human
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN Absence of collagen IX accelerates hypertrophic differentiation in the embryonic mouse spine through a disturbance of the Ihh-PTHrP feedback loop. 27666725 2017
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN Identification and characterization of mouse otic sensory lineage genes. 25852475 2015