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: 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: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 Biomarker disease BEFREE Glutamyl-prolyl-tRNA-synthetase (EPRS) has been identified as a target for anti-fibrosis therapy, but the link between EPRS and TGFβ1-mediated IPF pathogenesis remains unknown. 30524284 2018
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: 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: C0042164
Disease: Uveitis
Uveitis 		0.010 Biomarker disease BEFREE ROLE OF DIAGNOSTIC PARS PLANA VITRECTOMY IN DETERMINING THE ETIOLOGY OF UVEITIS INITIALLY UNKNOWN. 30358761 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 Biomarker group BEFREE Deep phenotyping of 5 additional patients with unreported compound heterozygous pathogenic variations in IARS, LARS, KARS, and QARS extended the common phenotype with lung disease, hypoalbuminemia, anemia, and renal tubulopathy. 29875423 2019
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: C2677112
Disease: Leukodystrophy, hypomyelinating
Leukodystrophy, hypomyelinating 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. 29576217 2018
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: 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: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.010 Biomarker disease BEFREE OUTCOMES OF REPEAT PARS PLANA VITRECTOMY AFTER FAILED SURGERY FOR PROLIFERATIVE VITREORETINOPATHY. 29232332 2018
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: C1299919
Disease: Enteric coccidiosis
Enteric coccidiosis 		0.010 Biomarker disease BEFREE Targeting Prolyl-tRNA Synthetase to Accelerate Drug Discovery against Malaria, Leishmaniasis, Toxoplasmosis, Cryptosporidiosis, and Coccidiosis. 28867614 2017
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: 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: 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
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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. 28056632 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. 28056632 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. 28056632 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 Biomarker disease BEFREE Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. 28056632 2017
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: 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