FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. 25931047 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 21567934 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 22107750 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 20362275 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 20696291 2010