DisGeNET - a database of gene-disease associations

SUCLG1, succinate-CoA ligase GDP/ADP-forming subunit alpha, 8802

N. diseases: 47; N. variants: 7

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607097

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

20453710

2010

dbSNP:

rs267607097

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

19526370

2010

dbSNP:

rs267607097

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

20693550

2010

dbSNP:

rs267607099

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

20693550

2010

dbSNP:

rs267607099

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

20453710

2010

dbSNP:

rs267607099

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

19526370

2010

dbSNP:

rs796052053

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

20453710

2010

dbSNP:

rs267607097

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

17668387

2007

dbSNP:

rs267607099

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

17668387

2007

dbSNP:

rs267607097

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607099

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

CausalMutation

CLINVAR

dbSNP:

rs796052053

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1369567672

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

GeneticVariation

CLINVAR

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

29217198

2018

dbSNP:

rs1369567672

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

GeneticVariation

CLINVAR

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

21639866

2011

dbSNP:

rs1369567672

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

GeneticVariation

CLINVAR

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

20453710

2010

dbSNP:

rs267607098

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

CausalMutation

CLINVAR

dbSNP:

rs786205871

Entrez Id:	1768;8802
Gene Symbol:	DNAH6;SUCLG1

DNAH6;SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

CausalMutation

CLINVAR

dbSNP:

rs797046017

Entrez Id:	8802
Gene Symbol:	SUCLG1

SUCLG1

CUI:	C3151476
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

0.700

CausalMutation

CLINVAR