Gene: COL2A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 GeneticVariation group BEFREE Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. 28738883 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 GeneticVariation group BEFREE Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. 26626311 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 GeneticVariation group BEFREE Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 25823796 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 GeneticVariation group LHGDN A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. 17509551 2007
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 Biomarker group CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.440 Biomarker group HPO