P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Disease: COLE-CARPENTER SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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