DisGeNET - a database of gene-disease associations

WARS2, tryptophanyl tRNA synthetase 2, mitochondrial, 10352

N. diseases: 110; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12132168

Entrez Id:	10352;104472716
Gene Symbol:	WARS2;WARS2-IT1

WARS2;WARS2-IT1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2645294

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs9428295

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs139548132

Entrez Id:	10352;101929147
Gene Symbol:	WARS2;WARS2-AS1

WARS2;WARS2-AS1

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

28905505

2017

dbSNP:

rs139548132

Entrez Id:	10352;101929147
Gene Symbol:	WARS2;WARS2-AS1

WARS2;WARS2-AS1

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

28650581

2017

dbSNP:

rs139548132

Entrez Id:	10352;101929147
Gene Symbol:	WARS2;WARS2-AS1

WARS2;WARS2-AS1

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

28236339

2017

dbSNP:

rs145867327

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

28650581

2017

dbSNP:

rs145867327

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

28236339

2017

dbSNP:

rs145867327

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

28905505

2017

dbSNP:

rs1553241795

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

28650581

2017

dbSNP:

rs1553241795

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

28905505

2017

dbSNP:

rs1553241795

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

28236339

2017

dbSNP:

rs17023223

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4049938
Disease:

Physical Activity Measurement

0.700

GeneticVariation

GWASCAT

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

28448500

2017

dbSNP:

rs17186024

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0002170
Disease:

Alopecia

0.700

GeneticVariation

GWASCAT

Genetic prediction of male pattern baldness.

28196072

2017

dbSNP:

rs2645294

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C1519383
Disease:

Smoking Behaviors

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

28443625

2017

dbSNP:

rs2645294

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4049938
Disease:

Physical Activity Measurement

0.700

GeneticVariation

GWASCAT

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

28448500

2017

dbSNP:

rs2645294

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

28443625

2017

dbSNP:

rs766501807

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

28650581

2017

dbSNP:

rs766501807

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

28236339

2017

dbSNP:

rs766501807

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

28905505

2017

dbSNP:

rs1170780314

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C4540192
Disease:

NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

0.700

GeneticVariation

UNIPROT

dbSNP:

rs139194636

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0085605
Disease:

Liver Failure

0.700

GeneticVariation

CLINVAR

dbSNP:

rs139194636

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0029124
Disease:

Optic Atrophy

0.700

GeneticVariation

CLINVAR

dbSNP:

rs139194636

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0553721
Disease:

Diminished sweating

0.700

GeneticVariation

CLINVAR

dbSNP:

rs139194636

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0026351
Disease:

Moderate intellectual disability

0.700

GeneticVariation

CLINVAR