rs587777585, VARS2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
0.800 GeneticVariation UNIPROT Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
0.800 GeneticVariation UNIPROT VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
0.800 CausalMutation CLINVAR
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Mitochondrial aminoacyl-tRNA synthetases in human disease. 23433712 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mitochondrial aminoacyl-tRNA synthetases in human disease. 23433712 2013
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Human diseases with impaired mitochondrial protein synthesis. 21708121 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Human diseases with impaired mitochondrial protein synthesis. 21708121 2011
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.010 GeneticVariation BEFREE Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive developmental delay, axial hypotonia, limbs spasticity, drug-resistant epilepsy leading, in some cases, to premature death. 31064326 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.010 GeneticVariation BEFREE Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive developmental delay, axial hypotonia, limbs spasticity, drug-resistant epilepsy leading, in some cases, to premature death. 31064326 2019
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.010 GeneticVariation BEFREE Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive developmental delay, axial hypotonia, limbs spasticity, drug-resistant epilepsy leading, in some cases, to premature death. 31064326 2019