Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation UNIPROT An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 29238895

2018
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 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
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation UNIPROT A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 29226520

2018
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation BEFREE We report here for the first time a patient who manifested combined D-2- and L-2-hydroxyglutaric aciduria as a result of a hemizygous mutation in SLC25A1 in combination with 22q11.2 deletion. 29265763

2018
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation UNIPROT Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 27306203

2016
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 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
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker BEFREE Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GermlineCausalMutation ORPHANET Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 23393310

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GermlineCausalMutation ORPHANET Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation UNIPROT Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 23393310

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation UNIPROT Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker GENOMICS_ENGLAND Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848

2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker HPO

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation CLINVAR

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker CTD_human

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 CausalMutation CLINVAR

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 GeneticVariation UNIPROT Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663

2019
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 Biomarker GENOMICS_ENGLAND Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663

2019
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 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
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 CausalMutation CLINVAR

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker BEFREE We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia. 12476324

2002
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation BEFREE The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia. 8682495

1996
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation BEFREE SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. 29226520

2018