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: 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