Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 Biomarker disease 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 		0.700 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 GermlineCausalMutation disease ORPHANET Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 9800905 1998
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 GeneticVariation disease UNIPROT Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 9800905 1998
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.700 Biomarker disease CTD_human