Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal 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
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
0.730 Biomarker GENOMICS_ENGLAND