Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		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
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN Identification and characterization of mouse otic sensory lineage genes. 25852475 2015
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		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
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN New tools for studying osteoarthritis genetics in zebrafish. 23159952 2013
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		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
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 GeneticVariation disease BEFREE A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. 20686772 2010
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		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
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN Type IX collagen knock-out mouse shows progressive hearing loss. 15710493 2005
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 Biomarker disease CLINGEN Type IX collagen is crucial for normal hearing. 15802199 2005
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 Biomarker disease BEFREE Patients with COL9A1-associated Stickler syndrome (STL) present hearing loss (HL), ophthalmic manifestations and skeletal abnormalities. 31315069 2019
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 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
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 GeneticVariation disease BEFREE A family with autosomal recessive Stickler syndrome was previously described and found to have a homozygous loss-of-function mutation in COL9A1. 21671392 2011
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 Biomarker disease CLINGEN A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families. 21421862 2011
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 GeneticVariation disease BEFREE Although the overall phenotype was comparable to autosomal dominant Stickler, vitreous changes that may enable recognition of patients who are likely to carry mutations in COL9A1 were identified, and exudative retinal detachment was observed as a new finding in Stickler syndrome. 21421862 2011
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 Biomarker disease CLINGEN Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence. 16718610 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 Biomarker disease CLINGEN Therefore, COL9A1 is the fourth identified gene that can cause Stickler syndrome. 16909383 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 GeneticVariation disease BEFREE Therefore, COL9A1 is the fourth identified gene that can cause Stickler syndrome. 16909383 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.350 Biomarker disease CLINGEN Type IX collagen is crucial for normal hearing. 15802199 2005
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.330 GeneticVariation disease BEFREE Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. 30362103 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.330 Biomarker disease CLINGEN Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. 31090205 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.330 Biomarker disease BEFREE Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. 31090205 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.330 GeneticVariation disease BEFREE We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX procollagen. 30450842 2018