Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 GeneticVariation disease BEFREE In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered. 31472299 2020
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 Biomarker disease BEFREE Studies have demonstrated that the aberrant LH2 function causes various diseases including osteogenesis imperfecta, fibrosis, and cancer metastasis. 30905411 2019
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 GeneticVariation disease BEFREE Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. 29178448 2018
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 Biomarker disease BEFREE Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. 22689593 2012
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 Biomarker disease GENOMICS_ENGLAND Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. 22689593 2012
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
0.350 GeneticVariation disease BEFREE Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 15523624 2004