rs786204843
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
COLE-CARPENTER SYNDROME 1
0.800
GeneticVariation
UNIPROT
rs786204843
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
COLE-CARPENTER SYNDROME 1
C
0.800
CausalMutation
CLINVAR
rs876016
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
Amyotrophic Lateral Sclerosis
0.020
GeneticVariation
BEFREE
Our results showed that SNPs rs876016</span> an d rs2070872 were significantly associated with ALS .
26000911
2016
rs876016
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs786204843
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs2070872
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
Amyotrophic Lateral Sclerosis
0.010
GeneticVariation
BEFREE
Our results showed that SNPs rs876016 and rs2070872</span> were s ignificantly associated with ALS .
26000911
2016
rs2070872
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs876016
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs573703484
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs8324
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs371977426
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs371977426
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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
rs371977426
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
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