Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GermlineCausalMutation disease ORPHANET VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GermlineCausalMutation disease ORPHANET Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease UNIPROT VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease UNIPROT Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease CLINVAR
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 CausalMutation disease CLINVAR
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 Biomarker disease CTD_human
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated deficiency of the mitochondrial respiratory chain (MRC) complex I and compound heterozygous mutations in TARS2 in two siblings presenting with axial hypotonia and severe psychomotor delay associated with multiple MRC defects. 24827421 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Mitochondrial aminoacyl-tRNA synthetases in human disease. 23433712 2013