×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
CausalMutation
disease
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
0.710
GeneticVariation
disease
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
0.710
CausalMutation
disease
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
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
CausalMutation
disease
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
0.710
CausalMutation
disease
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
0.710
Biomarker
disease
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
0.710
CausalMutation
disease
CLINVAR
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
22277967
2012
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
GeneticVariation
disease
UNIPROT
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344
2011
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344
2011
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
CausalMutation
disease
CLINVAR
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344
2011
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
GermlineCausalMutation
disease
ORPHANET
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344
2011
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
57505
Gene Symbol:
AARS2
AARS2
0.710
GeneticVariation
disease
CLINVAR
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
29440775
2018
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
27839525
2017
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
25705216
2015
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
25058219
2014
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
22277967
2012
TMEM151B
0.100
CausalMutation
disease
CLINVAR
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344
2011
TMEM151B
0.100
GeneticVariation
disease
CLINVAR