DisGeNET - a database of gene-disease associations

FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial, 10667

N. diseases: 89; N. variants: 27

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:

rs397514610

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

CausalMutation

CLINVAR

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

30177229

2018

dbSNP:

rs145555213

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C4310750
Disease:

SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.

26553276

2016

dbSNP:

rs145555213

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C4310750
Disease:

SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.

26553276

2016

dbSNP:

rs9328321

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASCAT

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

23563609

2013

dbSNP:

rs9328321

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASDB

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

23563609

2013

dbSNP:

rs397514610

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

22833457

2012

dbSNP:

rs397514610

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

22499341

2012

dbSNP:

rs397514610

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

CausalMutation

CLINVAR

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

22499341

2012

dbSNP:

rs397514611

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

22499341

2012

dbSNP:

rs397514611

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

CLINVAR

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

22833457

2012

dbSNP:

rs397514611

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

22833457

2012

dbSNP:

rs397514612

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

22833457

2012

dbSNP:

rs397514612

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

CLINVAR

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

22833457

2012

dbSNP:

rs397514612

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

UNIPROT

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

22499341

2012

dbSNP:

rs397514610

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

GeneticVariation

CLINVAR

dbSNP:

rs397514611

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

CausalMutation

CLINVAR

dbSNP:

rs397514612

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

CausalMutation

CLINVAR

dbSNP:

rs6906241

Entrez Id:	10667;57128
Gene Symbol:	FARS2;LYRM4

FARS2;LYRM4

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6906241

Entrez Id:	10667;57128
Gene Symbol:	FARS2;LYRM4

FARS2;LYRM4

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs11243033

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2145980

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2145980

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs4959355

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs6937985

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs746746116

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.700

GeneticVariation

CLINVAR

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

28043061

2017