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: rs121918212
rs121918212
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918212
rs121918212
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		T 0.800 CausalMutation CLINVAR