FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Bruck syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET 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: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation disease UNIPROT 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: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. 22085994 2012
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 22689593 2012
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation disease UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 20696291 2010
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 CausalMutation disease CLINVAR
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 Biomarker disease CTD_human