Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings. 24005482 2014
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings. 24407472 2014
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR 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
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. 22843165 2012
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Early-onset LBSL: how severe does it get? 23065766 2012
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. 19592391 2010
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007