FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Contracture of joint ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.030 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
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.030 GeneticVariation disease BEFREE Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. 25931047 2015
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.030 GeneticVariation disease BEFREE Loss of function mutations in FK506-binding protein 10 (FKBP10), encoding the FKBP65 protein, result in recessive OI and Bruck syndrome, of which the latter is additionally characterized by joint contractures. 24777781 2014