Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 Biomarker GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596

2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 Biomarker GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 Biomarker GENOMICS_ENGLAND Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. 18541977

2008
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 Biomarker GENOMICS_ENGLAND Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in a family with the Stickler syndrome, or arthro-ophthalmopathy, an autosomal dominant disorder that affects the eyes, ears, joints, and skeleton. 1677770

1991