Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.110 GeneticVariation disease BEFREE Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder. 10678662 2000
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.110 Biomarker disease HPO