PRCP, prolylcarboxypeptidase, 5547

N. diseases: 68; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10898041
rs10898041
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs12289095
rs12289095
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs12289095
rs12289095
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2229437
rs2229437
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12289095
rs12289095
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs749455351
rs749455351
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His, that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases. 25208524 2015
dbSNP: rs1268970749
rs1268970749
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE In this study, we found four rare missense heterozygous SEC24B mutations (p.Phe227Ser, p.Phe682Leu, p.Arg1248Gln, and p.Ala1251Gly) in NTDs cases that were absent in all controls. 23592378 2013
dbSNP: rs7104980
rs7104980
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The present results indicated PRCP rs7104980 can be considered as a marker for EH and Hap3 GAGCACTAACA (PRCP) and Hap16 TTTA (CMA1) might be associated with EH in Chinese Han population. 22679278 2013
dbSNP: rs2229437
rs2229437
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Prolylcarboxypeptidase E112D (rs2298668) D allele along and jointly with chronic hypertension were associated with a significantly increased risk of preeclampsia. 16681991 2006
dbSNP: rs2298668
rs2298668
Entrez Id: 5547
Gene Symbol: PRCP
PRCP
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Prolylcarboxypeptidase E112D (rs2298668) D allele along and jointly with chronic hypertension were associated with a significantly increased risk of preeclampsia. 16681991 2006