Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker 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
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker CLINGEN The clinical features were similar to the previously described COL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. 30450842

2018
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker CLINGEN Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. 24273071

2014
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker CLINGEN COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. 20686772

2010
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker CLINGEN The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. 18448257

2008
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.330 Biomarker CLINGEN Type IX collagen is crucial for normal hearing. 15802199

2005