Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.730 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
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.730 Biomarker GENOMICS_ENGLAND Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 15316962

2004

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.730 Biomarker GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071

1989

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
0.730 Biomarker GENOMICS_ENGLAND