×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GeneticVariation
disease
CLINVAR
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
0.700
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
Biomarker
disease
GENOMICS_ENGLAND
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
0.700
GeneticVariation
disease
CLINVAR
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
21639866
2011
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GermlineCausalMutation
disease
ORPHANET
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
21639866
2011
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GeneticVariation
disease
UNIPROT
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
0.700
GeneticVariation
disease
UNIPROT
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
20453710
2010
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GermlineCausalMutation
disease
ORPHANET
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
0.700
CausalMutation
disease
CLINVAR
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
20453710
2010
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GeneticVariation
disease
CLINVAR
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
20453710
2010
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
GeneticVariation
disease
UNIPROT
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
0.700
GeneticVariation
disease
UNIPROT
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
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
8802
Gene Symbol:
SUCLG1
SUCLG1
0.700
Biomarker
disease
GENOMICS_ENGLAND