DisGeNET - a database of gene-disease associations

FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial, 10667

N. diseases: 89; N. variants: 27

Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 ×

Variant: rs397514612 ×

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:

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:

rs397514612

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

CUI:	C3554168
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

0.800

CausalMutation

CLINVAR