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 Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. 25823796 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.110 Biomarker disease HPO