DisGeNET - a database of gene-disease associations

FARSB, phenylalanyl-tRNA synthetase subunit beta, 10056

N. diseases: 53; N. variants: 10

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:

rs1396171148

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

29979980

2018

dbSNP:

rs1396171148

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

30014610

2018

dbSNP:

rs1396171148

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

29573043

2018

dbSNP:

rs1466642025

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

29979980

2018

dbSNP:

rs1466642025

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

30014610

2018

dbSNP:

rs1466642025

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

29573043

2018

dbSNP:

rs1553553086

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

29573043

2018

dbSNP:

rs1553553086

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

30014610

2018

dbSNP:

rs1553553086

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

29979980

2018

dbSNP:

rs773579570

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

30014610

2018

dbSNP:

rs773579570

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

29573043

2018

dbSNP:

rs773579570

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

29979980

2018

dbSNP:

rs1396171148

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs1466642025

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553553086

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs753710639

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

dbSNP:

rs753710639

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs767956337

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

UNIPROT

dbSNP:

rs767956337

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs767956337

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

GeneticVariation

CLINVAR

dbSNP:

rs773579570

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553554543

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.700

GeneticVariation

UNIPROT

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

30014610

2018

dbSNP:

rs1553554543

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.700

GeneticVariation

UNIPROT

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

29979980

2018

dbSNP:

rs1553554543

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C3150910
Disease:

Brain calcification Rajab type

0.700

GeneticVariation

UNIPROT

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

29573043

2018

dbSNP:

rs1396171148

Entrez Id:	10056
Gene Symbol:	FARSB

FARSB

CUI:	C0002940
Disease:

Aneurysm

0.700

CausalMutation

CLINVAR