Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 GeneticVariation disease BEFREE Thus, spondyloperipheral dysplasia and PLSD-T constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and brachydactyly that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1. 15643621 2005
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 Biomarker disease BEFREE A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proalpha1(II) collagen. 12205109 2002
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 GeneticVariation disease BEFREE The syndrome o SEDT, precocious OA, and brachydactyly in a kindred of Chiloe Islanders is associated with a point mutation in 1 allele of the COL2A1 gene. 8024616 1994
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 Biomarker disease HPO