PPIB, peptidylprolyl isomerase B, 5479

N. diseases: 59; N. variants: 8
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
dbSNP: rs121434559
rs121434559
Entrez Id: 5479;79856
Gene Symbol: PPIB;SNX22
PPIB;SNX22
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853865
rs137853865
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853866
rs137853866
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853869
rs137853869
Entrez Id: 5479;79856
Gene Symbol: PPIB;SNX22
PPIB;SNX22
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122834
rs398122834
Entrez Id: 5479;79856
Gene Symbol: PPIB;SNX22
PPIB;SNX22
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1235014059
rs1235014059
Entrez Id: 5479
Gene Symbol: PPIB
PPIB
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.010 GeneticVariation 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
dbSNP: rs199606428
rs199606428
Entrez Id: 5479;79856
Gene Symbol: PPIB;SNX22
PPIB;SNX22
CUI: C1850169
Disease:
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 		0.010 GeneticVariation 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