Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
1.000 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
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
Spondyloepiphyseal dysplasia, congenita
1.000 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
Spondyloepiphyseal dysplasia, congenita
1.000 Biomarker GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071

1989