Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775

2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. 25705216

2015
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 CausalMutation CLINVAR Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. 27839525

2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.710 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.110 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.110 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.100 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.100 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.100 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.100 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 CausalMutation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 GeneticVariation CLINVAR

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012