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: 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: 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: 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
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: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 Biomarker group BEFREE PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON HIPPEL-LINDAU EYE DISEASE. 26308528 2016
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: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
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: 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: 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: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 Biomarker disease BEFREE We demonstrated the necessity of EPRS for proliferation of tamoxifen-resistant ER+ breast cancer, but not ER- breast cancer cells. 27612429 2016
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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
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: 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: 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: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO