DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: TAZ ×

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:

rs104894942

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.810

GeneticVariation

UNIPROT

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

12032589

2002

dbSNP:

rs104894942

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.810

GeneticVariation

UNIPROT

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

11238270

2001

dbSNP:

rs104894942

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.810

GeneticVariation

UNIPROT

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

9382096

1997

dbSNP:

rs104894942

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.810

GeneticVariation

UNIPROT

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

9382097

1997

dbSNP:

rs104894937

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

12032589

2002

dbSNP:

rs104894937

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

11238270

2001

dbSNP:

rs104894937

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

9382096

1997

dbSNP:

rs104894937

DNASE1L1 ; TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

9382097

1997

dbSNP:

rs132630277

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

12032589

2002

dbSNP:

rs132630277

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

11238270

2001

dbSNP:

rs132630277

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

9382097

1997

dbSNP:

rs132630277

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

9382096

1997

dbSNP:

rs387907218

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

12032589

2002

dbSNP:

rs387907218

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

11238270

2001

dbSNP:

rs387907218

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

9382096

1997

dbSNP:

rs387907218

TAZ

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.800

GeneticVariation

UNIPROT

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

9382097

1997