Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Loss of succinyl-CoA synthase ADP-forming β subunit disrupts mtDNA stability and mitochondrial dynamics in neurons. 28769029

2017
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker 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
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Novel mutation in SUCLA2 identified on sequencing analysis. 26952923

2016
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 26475597

2016
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN MMDB and VAST+: tracking structural similarities between macromolecular complexes. 24319143

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 23385875

2013
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. 23759946

2013
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 23010432

2012
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286

2007
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081

2007
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 15877282

2005