PPIB, peptidylprolyl isomerase B, 5479

N. diseases: 59; N. variants: 8
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 GeneticVariation disease BEFREE Two novel heterozygous PPIB mutations (father, c.25A>G; mother, c.509G>A) were identified in relation to osteogenesis imperfecta type IX. 28242392 2017
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 GeneticVariation disease BEFREE Mutations in PPIB cause recessively inherited osteogenesis imperfecta type IX, a moderately severe to lethal bone dysplasia. 24968150 2014
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 Biomarker disease MGD Mutations in PPIB cause recessively inherited osteogenesis imperfecta type IX, a moderately severe to lethal bone dysplasia. 24968150 2014
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 GeneticVariation disease BEFREE In one pedigree branch, both parents carry a deletion in PPIB (c.563_566delACAG), causing lethal type IX OI in their two children. 22718341 2012
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 GeneticVariation disease UNIPROT Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. 20089953 2010
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 GeneticVariation disease UNIPROT PPIB mutations cause severe osteogenesis imperfecta. 19781681 2009
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 Biomarker disease MGD Severe osteogenesis imperfecta in cyclophilin B-deficient mice. 19997487 2009
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 Biomarker disease CTD_human
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 CausalMutation disease CLINVAR
CUI: C1850169
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.930 Biomarker disease GENOMICS_ENGLAND