Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775 2018
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. 27839525 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. 25705216 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344 2011
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 GeneticVariation UNIPROT
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
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 Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023 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
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344 2011
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
0.700 GeneticVariation CLINVAR
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
0.700 GeneticVariation CLINVAR
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
0.700 GeneticVariation CLINVAR
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
0.700 GeneticVariation CLINVAR
Hydrops Fetalis, Non-Immune
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
0.700 GeneticVariation CLINVAR
Mixed respiratory and metabolic acidosis
0.700 GeneticVariation CLINVAR
Infantile cardiomyopathy
CUI: C1854776
Disease: Infantile cardiomyopathy
0.010 GeneticVariation BEFREE To date, all described patients with AARS2-related fatal infantile cardiomyopathy are united by either a homozygous or compound heterozygous c.1774C>T (p.Arg592Trp) missense founder mutation that is absent in patients with other AARS2-related phenotypes. 30285085 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE Finally, we investigated the effects of the severe infantile-onset cardiomyopathy-associated R592W mutation of hmtAlaRS on the canonical enzymatic activities of hmtAlaRS. 30952159 2019