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 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
0.130 GeneticVariation disease BEFREE Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. 26626311 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 GeneticVariation disease 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
0.130 CausalMutation disease CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.130 Biomarker disease HPO