Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.110 GeneticVariation disease BEFREE Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. 27549894 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.110 CausalMutation disease CLINVAR