EPRS1, glutamyl-prolyl-tRNA synthetase 1, 2058

N. diseases: 65; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234376
Disease: Action Tremor
Action Tremor
0.100 Biomarker phenotype HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia
0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 Biomarker disease BEFREE Exploratory efficacy measures included dimensional anxiety scales (Pediatric Anxiety Rating Scale [PARS] and Screen for Child Anxiety Related Emotional Disorders [SCARED]), as well as the Clinical Global Impression-Improvement (CGI-I) scale. 28165762 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 Biomarker group BEFREE Exploratory efficacy measures included dimensional anxiety scales (Pediatric Anxiety Rating Scale [PARS] and Screen for Child Anxiety Related Emotional Disorders [SCARED]), as well as the Clinical Global Impression-Improvement (CGI-I) scale. 28165762 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Genetic polymorphism of apolipoprotein A-IV in five different regions of Europe. Relations to plasma lipoproteins and to history of myocardial infarction: the EARS study. European Atherosclerosis Research Study. 7980697 1994
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 GeneticVariation disease BEFREE Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. EARS Group. 9925658 1999
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 GeneticVariation disease BEFREE Students with and without paternal history of myocardial infarction (cases and control subjects [controls]) were studied in the European Atherosclerosis Research Studies I and II (EARS-I and -II). 9264476 1997
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Expression of a paternal history of premature myocardial infarction on fibrinogen, factor VIIC and PAI-1 in European offspring--the EARS study. European Atherosclerosis Research Study Group. 8052959 1994
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Apo(a) phenotypes and Lp(a) concentrations in offspring of men with and without myocardial infarction. The EARS Study. European Atherosclerosis Research Study. 7627688 1995
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.050 Biomarker disease BEFREE Genetic polymorphism of apolipoprotein A-IV in five different regions of Europe. Relations to plasma lipoproteins and to history of myocardial infarction: the EARS study. European Atherosclerosis Research Study. 7980697 1994
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.050 Biomarker disease BEFREE Apo(a) phenotypes and Lp(a) concentrations in offspring of men with and without myocardial infarction. The EARS Study. European Atherosclerosis Research Study. 7627688 1995
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.050 GeneticVariation disease BEFREE Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. EARS Group. 9925658 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.050 Biomarker disease BEFREE Expression of a paternal history of premature myocardial infarction on fibrinogen, factor VIIC and PAI-1 in European offspring--the EARS study. European Atherosclerosis Research Study Group. 8052959 1994
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.050 GeneticVariation disease BEFREE Students with and without paternal history of myocardial infarction (cases and control subjects [controls]) were studied in the European Atherosclerosis Research Studies I and II (EARS-I and -II). 9264476 1997
CUI: C0004158
Disease: Athetosis
Athetosis
0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Several studies have suggested a role for the glutamyl prolyl tRNA synthetase (EPRS) in breast cancers, although none has identified any underlying mechanism about how EPRS contributes to carcinogenesis. 27612429 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 Biomarker group BEFREE In conclusion, the PARS risk assessment chart is a simple, accurate, and well-calibrated tool for predicting a 10-year risk of CVD occurrence in Iranian population and can be used in an attempt to develop national guidelines for the CVD management. 29261727 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 GeneticVariation group BEFREE As a part of the EARS study we assessed the role of the common apo A-IV polymorphism in determining the hereditary predisposition to cardiovascular disease. 7980697 1994
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 Biomarker group BEFREE Correction: PARS risk charts: A 10-year study of risk assessment for cardiovascular diseases in Eastern Mediterranean Region. 29370204 2018
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.100 Biomarker disease HPO
CUI: C0008055
Disease: Chikungunya Fever
Chikungunya Fever
0.010 Biomarker disease BEFREE Due to the increasing likelihood of co-circulation and co-infection with viruses, we aimed to identify a pharmacologically targetable host factor that can inhibit multiple viruses and show that a potent antagonist of prolyl tRNA synthetase (halofuginone) suppresses both Chikungunya and Dengue viruses. 30521835 2019
CUI: C0009187
Disease: Coccidiosis
Coccidiosis
0.010 Biomarker disease BEFREE Targeting Prolyl-tRNA Synthetase to Accelerate Drug Discovery against Malaria, Leishmaniasis, Toxoplasmosis, Cryptosporidiosis, and Coccidiosis. 28867614 2017
CUI: C0275524
Disease: Coinfection
Coinfection
0.010 GeneticVariation phenotype BEFREE Due to the increasing likelihood of co-circulation and co-infection with viruses, we aimed to identify a pharmacologically targetable host factor that can inhibit multiple viruses and show that a potent antagonist of prolyl tRNA synthetase (halofuginone) suppresses both Chikungunya and Dengue viruses. 30521835 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 Biomarker group BEFREE Eight core ARSs (EPRS, MRS, QRS, RRS, IRS, LRS, KRS, DRS) combined with three nonenzymatic components form a complex known as multisynthetase complex (MSC).We hypothesize that the single-nucleotide polymorphisms (SNPs) of the eight core ARS coding genes might influence the susceptibility of sporadic congenital heart disease (CHD). 25310850 2014