DisGeNET - a database of gene-disease associations

SLC25A1, solute carrier family 25 member 1, 6576

N. diseases: 168; N. variants: 15

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:

rs781908532

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C4748678
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC

0.800

GeneticVariation

UNIPROT

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

26870663

2019

dbSNP:

rs781908532

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C4748678
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC

0.800

GeneticVariation

UNIPROT

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

29031613

2018

dbSNP:

rs368647424

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

CausalMutation

CLINVAR

dbSNP:

rs368647424

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

GeneticVariation

UNIPROT

dbSNP:

rs431905509

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

CausalMutation

CLINVAR

dbSNP:

rs431905509

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

GeneticVariation

UNIPROT

dbSNP:

rs431905509

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

CausalMutation

CLINVAR

dbSNP:

rs431905509

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

GeneticVariation

CLINVAR

dbSNP:

rs431905510

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

CausalMutation

CLINVAR

dbSNP:

rs431905510

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.800

GeneticVariation

UNIPROT

dbSNP:

rs781908532

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C4748678
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC

0.800

CausalMutation

CLINVAR

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

29238895

2018

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

29031613

2018

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

29226520

2018

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

29031613

2018

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

29238895

2018

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

29226520

2018

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

27306203

2016

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

27306203

2016

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

25614306

2015

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

25614306

2015

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

23393310

2013

dbSNP:

rs781925968

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

23561848

2013

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

23393310

2013

dbSNP:

rs782335811

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

CUI:	C2746066
Disease:

Combined D-2- and L-2-hydroxyglutaric aciduria

0.700

GeneticVariation

UNIPROT

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

23561848

2013