PPIB, peptidylprolyl isomerase B, 5479

N. diseases: 59; N. variants: 8
Disease: OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853864
rs137853864
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.800 GeneticVariation UNIPROT Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. 20089953 2010
dbSNP: rs137853864
rs137853864
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.800 GeneticVariation UNIPROT PPIB mutations cause severe osteogenesis imperfecta. 19781681 2009
dbSNP: rs137853864
rs137853864
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		C 0.800 CausalMutation CLINVAR