P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 GeneticVariation disease BEFREE We discuss the genetic heterogeneity of CCS and underlying mechanism of P4HB in collagen production. 29263160 2018
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 GeneticVariation disease BEFREE Recently, the heterozygous missense mutation, c.1178A>G, p.Tyr393Cys, in exon 9 of P4HB which encodes protein disulfide isomerase, has been found in three Caucasian patients with CCS. 30063094 2018
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND In conclusion, Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI. 25683117 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 GermlineCausalMutation disease ORPHANET In conclusion, Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI. 25683117 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND In conclusion, Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI. 25683117 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 GeneticVariation disease BEFREE Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker disease CTD_human
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 GeneticVariation disease BEFREE This de novo deletion mutation in exons 5 to 8 of the P4HB gene advances our understanding of CLCRP1, expands the mutation spectrum of P4HB, and diversifies the cases reported for this condition. 29384951 2017
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND This de novo deletion mutation in exons 5 to 8 of the P4HB gene advances our understanding of CLCRP1, expands the mutation spectrum of P4HB, and diversifies the cases reported for this condition. 29384951 2017
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 GeneticVariation disease UNIPROT Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 CausalMutation disease CLINVAR
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
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		0.310 Biomarker disease CTD_human The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells. 24413982 2014
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		0.310 Biomarker disease BEFREE The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells. 24413982 2014
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.310 AlteredExpression disease BEFREE We found that ER molecular chaperones, such as BiP (immunoglobulin heavy-chain binding protein) and PDI (protein-disulfide isomerase) are down-regulated in osteoblasts from osteoporosis patients. 19760141 2010
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.310 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015