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: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 20453710

2010
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin. 9128182

1997