LNPEP, leucyl and cystinyl aminopeptidase, 4012

N. diseases: 174; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7705093
rs7705093
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C1853959
Disease:
Birdshot chorioretinopathy 		T 0.800 GeneticVariation GWASDB A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
dbSNP: rs7705093
rs7705093
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C1853959
Disease:
Birdshot chorioretinopathy 		T 0.800 GeneticVariation GWASCAT A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
dbSNP: rs11343706
rs11343706
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs38033
rs38033
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C3898105
Disease:
Oligoarticular Juvenile Idiopathic Arthritis 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C1858558
Disease:
Rheumatoid Arthritis, Systemic Juvenile 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C3890205
Disease:
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0087031
Disease:
Juvenile-Onset Still Disease 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C1384600
Disease:
Systemic onset juvenile chronic arthritis 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs27293
rs27293
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C2931171
Disease:
Juvenile pauciarticular chronic arthritis 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs3909451
rs3909451
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs1281032650
rs1281032650
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0023895
Disease:
Liver diseases 		0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs1373040226
rs1373040226
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases. 31638258 2019
dbSNP: rs4869317
rs4869317
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0003125
Disease:
Anorexia Nervosa 		0.010 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) of the following genes: oxytocin receptor (rs2254298, rs53576), OXT (rs6133010), OXT-arginine-vasopressin (rs2740204), CD38 (rs6449197, rs3796863), and human leucyl/cystinylaminopeptidase (rs4869317) were genotyped in 60 AN female inpatients and 60 healthy control females (HCs). 31385420 2019
dbSNP: rs4869317
rs4869317
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0013473
Disease:
Eating Disorders 		0.010 GeneticVariation BEFREE The leucyl/cystinylaminopeptidase rs4869317 SNP may be involved in the development of eating disorders psychopathology. 31385420 2019
dbSNP: rs10044354
rs10044354
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0042164
Disease:
Uveitis 		0.010 GeneticVariation BEFREE In both cohorts, the combined rs2287987-rs10044354 haplotype associated with Birdshot more strongly than either variant alone [meta-analysis: P=3.9 × 10(-9)]. 30215709 2018
dbSNP: rs371928156
rs371928156
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0206526
Disease:
Tuberculosis, Multidrug-Resistant 		0.010 GeneticVariation BEFREE Among the 703 analysed strains, 12.8% were MDR; Ser531Leu and Ser315Thr being the most common recorded mutations within rpoB and katG genes associated with RIF and INH resistance respectively. 29486710 2018
dbSNP: rs1425322249
rs1425322249
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0038868
Disease:
Progressive supranuclear palsy 		0.010 GeneticVariation BEFREE We have identified DCTN1 p.K56R in patients with PSP. 27132499 2016
dbSNP: rs2303138
rs2303138
Entrez Id: 4012
Gene Symbol: LNPEP
LNPEP
CUI: C0033860
Disease:
Psoriasis 		0.010 GeneticVariation BEFREE We identified the missense variant rs2303138 (p.Ala763Thr) within the LNPEP gene associated with psoriasis (Pcombined=1.83 × 10(-13), odds ratio=1.16) and validated four previously reported genes: IL28RA, NFKBIA, TRAF3IP2, and CARD14 (9.74 × 10(-11)P9.37 × 10(-5)), which confirmed the involvement of the nuclear factor-κB signaling pathway in psoriasis pathogenesis. 23897274 2014
dbSNP: rs2762
rs2762
Entrez Id: 4012;51752
Gene Symbol: LNPEP;ERAP1
LNPEP;ERAP1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE However, no association of rs2762 with T1D was found by the transmission disequilibrium test (transmission ratio A/G=377/388, p=0.69). 17129607 2007