Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Absence of collagen IX accelerates hypertrophic differentiation in the embryonic mouse spine through a disturbance of the Ihh-PTHrP feedback loop. 27666725

2017
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Identification and characterization of mouse otic sensory lineage genes. 25852475

2015
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome. 23530037

2013
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN New tools for studying osteoarthritis genetics in zebrafish. 23159952

2013
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392

2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. 20686772

2010
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977

2008
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Type IX collagen knock-out mouse shows progressive hearing loss. 15710493

2005
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker CLINGEN Type IX collagen is crucial for normal hearing. 15802199

2005