Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 0.800 CausalMutation CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775

2018
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 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
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 0.800 CausalMutation CLINVAR Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. 25705216

2015
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 0.800 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 0.800 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		A 0.800 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.800 GeneticVariation UNIPROT

dbSNP: rs387907061
rs387907061
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		0.800 GeneticVariation UNIPROT Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs387907061
rs387907061
AARS2
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		C 0.800 CausalMutation CLINVAR

dbSNP: rs543267101
rs543267101
AARS2 ; TMEM151B
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 GeneticVariation UNIPROT Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs543267101
rs543267101
AARS2 ; TMEM151B
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		T 0.800 CausalMutation CLINVAR

dbSNP: rs587777590
rs587777590
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 GeneticVariation UNIPROT Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs587777590
rs587777590
AARS2
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		C 0.800 CausalMutation CLINVAR

dbSNP: rs587777592
rs587777592
AARS2 ; TMEM151B
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		0.800 GeneticVariation UNIPROT Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs587777592
rs587777592
AARS2 ; TMEM151B
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		T 0.800 CausalMutation CLINVAR

dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023

2014
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344

2011
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		A 0.700 GeneticVariation CLINVAR