P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204843
rs786204843
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C4317154
Disease:
COLE-CARPENTER SYNDROME 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs786204843
rs786204843
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C4317154
Disease:
COLE-CARPENTER SYNDROME 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs876016
rs876016
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Our results showed that SNPs rs876016</span> and rs2070872 were significantly associated with ALS. 26000911 2016
dbSNP: rs876016
rs876016
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Significant allelic associations were also obtained for rs876016 with FALS (P=0.0155) and ALS (FALS and SALS) (P=0.0148). 23337974 2013
dbSNP: rs786204843
rs786204843
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862178
Disease:
Cole Carpenter syndrome 		0.010 GeneticVariation 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
dbSNP: rs2070872
rs2070872
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Our results showed that SNPs rs876016 and rs2070872</span> were significantly associated with ALS. 26000911 2016
dbSNP: rs2070872
rs2070872
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE Individuals carrying rs876016/ rs2070872 C/G genotypes were associated with a significantly increased risk of SALS. 26000911 2016
dbSNP: rs876016
rs876016
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE Individuals carrying rs876016/ rs2070872 C/G genotypes were associated with a significantly increased risk of SALS. 26000911 2016
dbSNP: rs573703484
rs573703484
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0149871
Disease:
Deep Vein Thrombosis 		0.010 GeneticVariation BEFREE This study aimed to explore the functional consequences of two missense mutations, p.Asp297His and p.Val420Ile, responsible for type I/II PCD and recurrent deep vein thrombosis (DVT) in a Chinese family. 25748729 2015
dbSNP: rs8324
rs8324
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Four SNP haplotypes, which included two additional flanking SNPs, rs876017 and rs8324, were examined and rare haplotypes were found to be more common in ALS cases compared to controls. 23337974 2013
dbSNP: rs371977426
rs371977426
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0026769
Disease:
Multiple Sclerosis 		0.010 GeneticVariation BEFREE Twenty TNFRSF1A R92Q carriers had MS according to the McDonald criteria, and 1 had clinically isolated syndrome. 19029521 2008
dbSNP: rs371977426
rs371977426
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C2921627
Disease:
Clinically isolated syndrome 		0.010 GeneticVariation BEFREE Twenty TNFRSF1A R92Q carriers had MS according to the McDonald criteria, and 1 had clinically isolated syndrome. 19029521 2008
dbSNP: rs371977426
rs371977426
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C3889136
Disease:
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 GeneticVariation BEFREE We recently identified the R92Q mutation encoded by exon 4 in six patients with multiple sclerosis (MS) who reported at least two symptoms suggestive of TRAPS. 19029521 2008