Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker 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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker 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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		0.630 Biomarker GENOMICS_ENGLAND

Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker 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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117

2015
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		0.610 Biomarker GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117

2015
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.320 Biomarker GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117

2015