Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.040 GeneticVariation group BEFREE A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. 31529142 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.040 GeneticVariation group BEFREE Our report expands the spectrum of known pathogenicVARS2 variants associated with mitochondrial disorders in humans.VARS2 deficiency may cause a severe neonatal presentation with structural cardiac abnormalities. 30458719 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.040 Biomarker group BEFREE Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. 29314548 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.040 GeneticVariation group BEFREE These included recurrent mutations in RMND1, AARS2, and MTO1, each on a haplotype background consistent with a shared founder allele, and potential novel mutations in 4 possible mitochondrial disease genes (VARS2, GARS, FLAD1, and PTCD1). 25058219 2014