Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE As mitochondrial ARSs are key components of the mitochondrial translation apparatus, we investigated the effects of DARS2 mutations on mitochondrial functions and mitochondrial morphology in an LBSL patient. 31671122 2019
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE More recently, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) has been reported to be caused by autosomal recessive mutations in a mitochondrial aspartyl-tRNA synthetase, DARS2 gene. 22422207 2012
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE We also report that novel mutations in mt-AspRS and mt-ArgRS genes from individuals with LBSL and PCH6, respectively, had no significant impact on the mitochondrial localizations of mt-AspRS and mt-ArgRS. 30006346 2018
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. 24566671 2014
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. 26327357 2015
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE Patients with DARS2 mutations more often had involvement of structures typically affected in LBSL, including decussatio of the medial lemniscus, anterior spinocerebellar tracts, and superior and inferior cerebellar peduncles. 23065766 2012
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.780 GeneticVariation disease BEFREE Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. 30352563 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies. 26620921 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. 26327357 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Mutations in some of these genes, including aspartyl-tRNA synthetase (DARS2), lead to the onset of a white matter disease-leukoencephalopathy with brainstem and spinal cord involvement, and lactate elevation (LBSL) characterized by progressive spastic ataxia and characteristic leukoencephalopathy signature with multiple long-tract involvements. 28985337 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Of interest, we found an intronic variant in DARS2, a gene involved in mitochondrial DNA translation, responsible for the syndrome of leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate. 21427441 2011
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. 23643384 2013
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 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 		0.200 GeneticVariation group BEFREE Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. 22677571 2013
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.200 GeneticVariation group BEFREE Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients. 23652419 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Our pathogenicity interpretation pathway predicted 13 different mutations in eight different genes: PRKCG, TTBK2, SETX, SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including one causing a newly described recessive ataxia syndrome. 24030952 2013
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 GeneticVariation phenotype BEFREE The patient presented with exercise-induced paroxysmal gait ataxia and areflexia as an atypical phenotype associated with a novel homozygous DARS2 mutation. 21749991 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASDB Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246 2007
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE Here, the authors present a case of leukoencephalopathy with brainstem and spinal cord involvement with normal brain lactate, in which genetic analysis revealed a new mutation in the DARS2 gene not previously described. 20501884 2010
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthetase). 23216004 2013
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE Of interest, we found an intronic variant in DARS2, a gene involved in mitochondrial DNA translation, responsible for the syndrome of leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate. 21427441 2011
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. 23643384 2013
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) was recently shown to be caused by mutations in the DARS2 gene, encoding a mitochondrial aspartyl-tRNA synthetase. 21749991 2011
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		0.100 GeneticVariation disease BEFREE Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. 21792730 2012