SLC25A1, solute carrier family 25 member 1, 6576

N. diseases: 168; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease UNIPROT An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. 29238895 2018
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease 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
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease UNIPROT A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. 29226520 2018
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease 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
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease UNIPROT Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 27306203 2016
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease 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
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker disease BEFREE Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GermlineCausalMutation disease ORPHANET Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 23393310 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GermlineCausalMutation disease ORPHANET Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease UNIPROT Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 23393310 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease UNIPROT Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker disease GENOMICS_ENGLAND Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria. 23561848 2013
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker disease HPO
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 GeneticVariation disease CLINVAR
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 Biomarker disease CTD_human
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.720 CausalMutation disease CLINVAR
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 GeneticVariation disease UNIPROT Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663 2019
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663 2019
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 GeneticVariation disease 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
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease 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
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype 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