Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Codon 831 of the FKBP10 gene may represent a mutation hotspot for human OI. 29512769 2018
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A > G, IVS7-2A > G) in FKBP10 gene in the patient. 29801479 2018
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65-kDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. 28206698 2017
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE In conclusion, we report for the first time that these novel pathogenic mutations of FKBP10 can lead to the extremely rare type XI OI without contractures, which expands the genotypic spectrum of OI. 27762305 2017
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients. 27706701 2016
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families. 26538303 2016
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65. 25510505 2015
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 Biomarker disease BEFREE Heat shock protein 47 (HSP47) and FK506-binding protein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding, and chaperoning, while defects in SP7 transcription factor, wingless-type MMTV integration site family member 1 (WNT1), trimeric intracellular cation channel type b (TRIC-B), and old astrocyte specifically induced substance (OASIS) disrupt osteoblast development. 25007323 2014
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 22949511 2013
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI) and Bruck syndrome (OI plus congenital contractures). 23712425 2013
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE We report the case of a patient with an initially mild and then progressively severe form of osteogenesis imperfecta due to a novel homozygous splicing mutation in FKBP10 (intron 8 c.1399+1G>A), which results in aberrant mRNA processing and consequent lack of FKBP65 chaperone. 22061863 2012
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI. 21667357 2012
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. 22689593 2012
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. 21567934 2011
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI. 21567925 2011
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. 20839288 2011
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 22107750 2011
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 GeneticVariation disease BEFREE Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 20362275 2010