COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: Stickler syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease 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
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN New tools for studying osteoarthritis genetics in zebrafish. 23159952 2013
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 GeneticVariation disease BEFREE Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler syndrome). 23922384 2013
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 GeneticVariation disease BEFREE A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. 20686772 2010
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977 2008
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN Type IX collagen knock-out mouse shows progressive hearing loss. 15710493 2005
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 Biomarker disease CLINGEN Type IX collagen is crucial for normal hearing. 15802199 2005
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.420 GeneticVariation disease CLINVAR