LARS1, leucyl-tRNA synthetase 1, 51520

N. diseases: 38; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809522
Disease: INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 22607940 2012
CUI: C3809522
Disease: INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 		0.700 GermlineCausalMutation disease ORPHANET Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 22607940 2012
CUI: C3809522
Disease: INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Identification of a mutation in LARS as a novel cause of infantile hepatopathy. 22607940 2012
CUI: C3809522
Disease: INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 		0.700 Biomarker disease CTD_human
CUI: C3809522
Disease: INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 		0.700 CausalMutation disease CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 Biomarker disease HPO
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.030 Biomarker disease BEFREE In this study, we built ligand-based pharmacophore models and performed pharmacophore screening in order to identify hit compounds targeting simultaneously two enzymes-M. tuberculosis leucyl-tRNA synthetase (LeuRS) and methionyl-tRNA synthetase (MetRS). 31691918 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.030 Biomarker disease BEFREE Further evaluation of these Mtb LeuRS inhibitors by in vivo pharmacokinetics (PK) and murine tuberculosis (TB) efficacy models led to the discovery of GSK3036656 (abbreviated as GSK656). 28953378 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.030 AlteredExpression disease BEFREE X-ray crystallography was used to guide the design of LeuRS inhibitors that have good biochemical potency and excellent whole-cell activity against M. tuberculosis Importantly, their good oral bioavailability translates into in vivo efficacy in both the acute and chronic mouse models of TB with potency comparable to that of the frontline drug isoniazid. 27503647 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 Biomarker group BEFREE ILFS1 is a kind of infantile hepatopathy, which is difficult to diagnose and manage. 30262142 2018