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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.030 GeneticVariation disease BEFREE The distribution of fasting plasma lipid concentrations in the offspring of men with premature coronary heart disease in Europe. The EARS Study. 7960371 1994
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 GeneticVariation disease BEFREE The distribution of fasting plasma lipid concentrations in the offspring of men with premature coronary heart disease in Europe. The EARS Study. 7960371 1994
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE The distribution of fasting plasma lipid concentrations in the offspring of men with premature coronary heart disease in Europe. The EARS Study. 7960371 1994
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: 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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 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 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 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 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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 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: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 GeneticVariation group BEFREE Short stature and heart disease: nature or nurture? The EARS Group. 9279606 1997
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 Biomarker disease BEFREE We present evidence that genetic disruption of PARS provides protection against myocardial ischemia and reperfusion injury by inhibiting the expression of P-selectin and intercellular adhesion molecule-1 (ICAM-1) and, consequently, by inhibiting the recruitment of neutrophils into the jeopardized tissue. 9670921 1998
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 Biomarker disease BEFREE We present evidence that genetic disruption of PARS provides protection against myocardial ischemia and reperfusion injury by inhibiting the expression of P-selectin and intercellular adhesion molecule-1 (ICAM-1) and, consequently, by inhibiting the recruitment of neutrophils into the jeopardized tissue. 9670921 1998
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: 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: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.010 Biomarker disease BEFREE According to the EARS-Net surveillance data, Portugal has the highest prevalence of nosocomial methicillin-resistant Staphylococcus aureus (MRSA) in Europe, but the information on MRSA in the community is very scarce and the links between the hospital and community are not known. 23593155 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.030 GeneticVariation disease BEFREE Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. 24656866 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.020 GeneticVariation phenotype BEFREE Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. 24656866 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE Our results highlight the importance of QARS during brain development and that epilepsy due to impairment of QARS activity is unusually severe in comparison to other aminoacyl-tRNA synthetase disorders. 24656866 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.030 GeneticVariation disease BEFREE These findings indicate that genetic variants of the EPRS gene may influence the individual susceptibility to CHD in the Chinese Han population. 25310850 2014
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