Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894375
rs104894375
SLC25A3
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE We identified a homozygous mutation--c.215G-->A (p.Gly72Glu)--in the alternatively spliced exon 3A of this enzyme in two siblings with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia who died within the 1st year of life. 17273968

2007
dbSNP: rs1135402725
rs1135402725
PDHX
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164

2015
dbSNP: rs1157637439
rs1157637439
VARS2
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE We report the novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) in a female infant who presented with poor sucking at birth, poor activity, hyporeflexia, hypertonia, persistent pulmonary hypertension of newborn (PPHN), metabolic acidosis, severe lactic acidosis, expansion and hypertrophic cardiomyopathy. 30458719

2018
dbSNP: rs150283105
rs150283105
ACAD9 ; KIAA1257
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). 28279569

2017
dbSNP: rs201650281
rs201650281
KARS1
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. 30252186

2018
dbSNP: rs374661051
rs374661051
UQCRC2 ; PDZD9
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. 28275242

2017
dbSNP: rs763004980
rs763004980
ACAD9
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.010 GeneticVariation BEFREE We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). 28279569

2017