Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.350 Biomarker 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
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.350 Biomarker 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
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.350 Biomarker CLINGEN Therefore, COL9A1 is the fourth identified gene that can cause Stickler syndrome. 16909383

2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.350 Biomarker CLINGEN Type IX collagen is crucial for normal hearing. 15802199

2005