DisGeNET - a database of gene-disease associations

SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12

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:

rs104893873

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs104893874

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs104893876

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs121912683

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs28999114

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs770816416

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

27693233

2016

dbSNP:

rs121912683

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

25732997

2015

dbSNP:

rs770816416

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

25732997

2015

dbSNP:

rs121912683

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

22187496

2012

dbSNP:

rs770816416

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

22187496

2012

dbSNP:

rs104893873

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs104893874

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs104893876

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs28999114

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

18575922

2008

dbSNP:

rs104893873

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

15792871

2005

dbSNP:

rs104893874

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

15792871

2005

dbSNP:

rs104893876

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

15792871

2005

dbSNP:

rs121912683

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

16155110

2005

dbSNP:

rs28999114

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

15792871

2005

dbSNP:

rs770816416

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C3809443
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

16155110

2005

dbSNP:

rs104893873

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

12707443

2003

dbSNP:

rs104893874

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

12707443

2003

dbSNP:

rs104893876

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

12707443

2003

dbSNP:

rs28999114

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

12707443

2003

dbSNP:

rs104893873

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

CUI:	C1836460
Disease:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2

0.800

GeneticVariation

UNIPROT

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

12112115

2002