P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Disease: Osteogenesis Imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.320 Biomarker disease BEFREE <i>P4HB</i> encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. 30948499 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.320 AlteredExpression disease BEFREE BMD = bone mineral density; MIM = Mendelian Inheritance in Man; OI = osteogenesis imperfecta; PDI = protein disulfide isomerase. 30913006 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.320 Biomarker disease GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015