P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Disease: Cole Carpenter syndrome ×
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