Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.020 GeneticVariation group BEFREE Bruck Syndrome is a connective tissue disease associated with inactivating mutations in lysyl hydroxylase 2 (LH2/PLOD2) or FK506 binding protein 65 (FKBP65/FKBP10). 28378777 2017
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.020 GeneticVariation group BEFREE Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 22689593 2012