Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 29217198

2018
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. 27484306

2016
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
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: 8802
Gene Symbol: SUCLG1
SUCLG1
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 missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 19526370

2010
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 20693550

2010
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
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 ligase deficiency: a mitochondrial hepatoencephalomyopathy. 20453710

2010
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. 20197121

2010
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
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 alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 17668387

2007
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin. 9128182

1997