Source: ALL

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 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 GeneticVariation BEFREE Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). 28820624

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 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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
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 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 Biomarker GENOMICS_ENGLAND 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 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 GeneticVariation UNIPROT 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 Biomarker GENOMICS_ENGLAND 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 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 Biomarker GENOMICS_ENGLAND 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 GermlineCausalMutation ORPHANET 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 Biomarker CTD_human

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 Biomarker GENOMICS_ENGLAND Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 GeneticVariation UNIPROT Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
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: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.700 Biomarker CTD_human

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.320 GeneticVariation BEFREE Mutations in the mitochondrial alanyl-tRNA synthetase gene, AARS2, have been reported to cause leukoencephalopathy associated with early ovarian failure, a clinical presentation described as "ovarioleukodystrophy." 31705293

2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.320 Biomarker BEFREE AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases. 29749055

2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		0.320 GermlineCausalMutation ORPHANET Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.310 Biomarker BEFREE AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. 30272204

2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.310 GermlineCausalMutation ORPHANET Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. 27749956

2016