Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.020 GeneticVariation disease BEFREE Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in cartilage-associated protein (<i>CRTAP</i>), prolyl-3-hydroxylase 1 (<i>P3H1</i>) and cyclophilin B (<i>PPIB</i>), respectively, are characterized by the synthesis of overmodified collagen. 31171565 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.020 Biomarker disease BEFREE We propose a revised classification of OI with exclusion of OI type VII and VIII since these types have been added because of genetic criteria (autosomal recessive inheritance) while the clinical and radiological features are indistinguishable from OI types II-IV. 19878741 2010