Disease: Necrotizing encephalopathy, infantile subacute, of Leigh ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 27913098 2017
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Loss of succinyl-CoA synthase ADP-forming β subunit disrupts mtDNA stability and mitochondrial dynamics in neurons. 28769029 2017
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 26475597 2016
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Novel mutation in SUCLA2 identified on sequencing analysis. 26952923 2016
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465 2014
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN MMDB and VAST+: tracking structural similarities between macromolecular complexes. 24319143 2014
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 23385875 2013
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 23759946 2013
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 23010432 2012
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286 2007
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282 2005