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: C4693733
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 15
LEUKODYSTROPHY, HYPOMYELINATING, 15 		0.400 GeneticVariation disease UNIPROT Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. 29576217 2018
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 GeneticVariation disease BEFREE The clinical presentation of our patients differs from the original QARS-associated syndrome in the severe postnatal growth failure, absence of epilepsy, and minor MRI findings, thus further expanding the phenotypic spectrum of the glutaminyl-tRNA synthetase deficiency syndromes. 28620870 2017
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: 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 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: 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.030 GeneticVariation disease BEFREE Four single nucleotide polymorphisms (SNPs) in EPRS have been reported to be associated with risks of CHD in Chinese populations. 27871331 2016
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: 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: C0025958
Disease: Microcephaly
Microcephaly 		0.030 GeneticVariation disease BEFREE Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly. 25471517 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.030 GeneticVariation disease BEFREE Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 28620870 2017
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: 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: 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: C0036572
Disease: Seizures
Seizures 		0.020 GeneticVariation phenotype BEFREE Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly. 25471517 2015
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: 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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE Conversion to Parkinson Disease in the PARS Hyposmic and Dopamine Transporter-Deficit Prodromal Cohort. 28595287 2017
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.010 GeneticVariation group BEFREE By means of Physical Activity Rating Scale (PARS-3), internal Inhibition Scale and Drug Craving Scale, this study investigated the individuals with substance use disorder under rehabilitation in the women compulsory isolation rehabilitation center in Chongqing, China. 31551851 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 GeneticVariation disease BEFREE Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. 25432320 2015
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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.010 GeneticVariation disease BEFREE Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. 25471517 2015
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 GeneticVariation phenotype BEFREE The clinical presentation of our patients differs from the original QARS-associated syndrome in the severe postnatal growth failure, absence of epilepsy, and minor MRI findings, thus further expanding the phenotypic spectrum of the glutaminyl-tRNA synthetase deficiency syndromes. 28620870 2017