Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.630 GeneticVariation disease BEFREE We discuss the genetic heterogeneity of CCS and underlying mechanism of P4HB in collagen production. 29263160 2018
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		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
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.630 GeneticVariation disease BEFREE Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117 2015
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.630 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.630 Biomarker disease CTD_human
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 GeneticVariation disease BEFREE We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2. 30462379 2018
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 GermlineCausalMutation disease ORPHANET Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.610 Biomarker disease CTD_human
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP 		0.010 GeneticVariation disease BEFREE We report on a child with Cole-Carpenter syndrome phenotype who has a homozygous c.118G>T mutation in exon 1 of the CRTAP gene. 25604815 2015