Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782335811
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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
rs782335811
SLC25A1
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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