DARS1, aspartyl-tRNA synthetase 1, 1615

N. diseases: 40; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 AlteredExpression disease BEFREE DARS expression is significantly enriched in the cerebellum, a region affected in HBSL patients and important for motor control. 29615866 2018
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease BEFREE In summary, our data is an important contribution to a better understanding of DARS function and HBSL pathology. 27816769 2017
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease GENOMICS_ENGLAND Adolescents with mutations in DARS can present with a comparable clinical picture, broadening the clinical spectrum of hypomyelination with brainstem and spinal cord involvement and leg spasticity. 25527264 2015
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease GENOMICS_ENGLAND Adolescents with mutations in DARS can present with a comparable clinical picture, broadening the clinical spectrum of hypomyelination with brainstem and spinal cord involvement and leg spasticity. 25527264 2015
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 GeneticVariation disease BEFREE Adolescents with mutations in DARS can present with a comparable clinical picture, broadening the clinical spectrum of hypomyelination with brainstem and spinal cord involvement and leg spasticity. 25527264 2015
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease GENOMICS_ENGLAND Adolescents with mutations in DARS can present with a comparable clinical picture, broadening the clinical spectrum of hypomyelination with brainstem and spinal cord involvement and leg spasticity. 25527264 2015
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease GENOMICS_ENGLAND Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically characterized by hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), as well as the identification of compound-heterozygous and homozygous mutations in cytoplasmic aspartyl-tRNA synthetase (DARS). 23643384 2013
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 GeneticVariation disease UNIPROT Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically characterized by hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), as well as the identification of compound-heterozygous and homozygous mutations in cytoplasmic aspartyl-tRNA synthetase (DARS). 23643384 2013
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 GermlineCausalMutation disease ORPHANET Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically characterized by hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), as well as the identification of compound-heterozygous and homozygous mutations in cytoplasmic aspartyl-tRNA synthetase (DARS). 23643384 2013
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 CausalMutation disease CLINVAR
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 Biomarker disease CTD_human
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.730 GeneticVariation disease CLINVAR
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.130 Biomarker group BEFREE DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.130 GeneticVariation group BEFREE Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies. 26620921 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.130 GeneticVariation group BEFREE Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. 21121901 2011
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.130 Biomarker group HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease BEFREE Missense mutations of the gene encoding DARS result in the leukodystrophy hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) with a distinct pattern of hypomyelination, motor abnormalities, and cognitive impairment. 29615866 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 Biomarker disease BEFREE In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. 27816769 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease CLINVAR
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018