DisGeNET - a database of gene-disease associations

Source: BEFREE

Gene: GATA1 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C1839163
Disease:	THROMBOCYTOPENIA 1 (disorder)

THROMBOCYTOPENIA 1 (disorder)

0.020

1.000

2002

2004

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C0002871
Disease:	Anemia

Anemia

0.020

1.000

2000

2012

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C0040034
Disease:	Thrombocytopenia

Thrombocytopenia

0.020

1.000

2000

2012

dbSNP:

rs104894808

GATA1

0.851

0.120

48792376

missense variant

G/T

snv

CUI:	C0002871
Disease:	Anemia

Anemia

0.010

1.000

2002

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C0005779
Disease:	Blood Coagulation Disorders

Blood Coagulation Disorders

0.010

1.000

2005

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C0272302
Disease:	Gray Platelet Syndrome

Gray Platelet Syndrome

0.010

1.000

2007

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C3841475
Disease:	beta^+^ Thalassemia

beta^+^ Thalassemia

0.010

1.000

2002

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C1845837
Disease:	Dyserythropoietic Anemia with Thrombocytopenia

Dyserythropoietic Anemia with Thrombocytopenia

0.010

1.000

2004

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C0005283
Disease:	beta Thalassemia

beta Thalassemia

0.010

1.000

2002

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C0039730
Disease:	Thalassemia

Thalassemia

0.010

1.000

2002

dbSNP:

rs104894809

GATA1

0.790

0.120

48792371

missense variant

G/A

snv

9.5E-06

CUI:	C2751260
Disease:	Macrothrombocytopenia

Macrothrombocytopenia

0.010

1.000

2002

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C2751260
Disease:	Macrothrombocytopenia

Macrothrombocytopenia

0.010

1.000

2002

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C0678199
Disease:	Anemia of inadequate production

Anemia of inadequate production

0.010

1.000

2002

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C0005283
Disease:	beta Thalassemia

beta Thalassemia

0.010

1.000

2002

dbSNP:

rs104894815

GATA1

0.776

0.120

48792337

missense variant

G/A

snv

CUI:	C3841475
Disease:	beta^+^ Thalassemia

beta^+^ Thalassemia

0.010

1.000

2002

dbSNP:

rs104894816

GATA1

0.827

0.120

48792377

missense variant

A/G

snv

CUI:	C0002871
Disease:	Anemia

Anemia

0.010

1.000

2002

dbSNP:

rs104894816

GATA1

0.827

0.120

48792377

missense variant

A/G

snv

CUI:	C2751260
Disease:	Macrothrombocytopenia

Macrothrombocytopenia

0.010

1.000

2002

dbSNP:

rs137852312

GATA1

0.882

0.120

48792346

missense variant

GG/TC

mnv

CUI:	C2751260
Disease:	Macrothrombocytopenia

Macrothrombocytopenia

0.010

1.000

2002

dbSNP:

rs387907207

GATA1

0.925

0.200

48792370

missense variant

C/T

snv

CUI:	C0162530
Disease:	Porphyria, Erythropoietic

Porphyria, Erythropoietic

0.010

1.000

2015

dbSNP:

rs587776454

GATA1

0.851

0.160

48792346

missense variant

G/A;C

snv

CUI:	C4552766
Disease:	Miscarriage

Miscarriage

0.010

1.000

2011

dbSNP:

rs587776454

GATA1

0.851

0.160

48792346

missense variant

G/A;C

snv

CUI:	C0678199
Disease:	Anemia of inadequate production

Anemia of inadequate production

0.010

1.000

2005

dbSNP:

rs587776454

GATA1

0.851

0.160

48792346

missense variant

G/A;C

snv

CUI:	C2751260
Disease:	Macrothrombocytopenia

Macrothrombocytopenia

0.010

1.000

2005

dbSNP:

rs893810317

GATA1

48793910

missense variant

C/T

snv

CUI:	C3463824
Disease:	MYELODYSPLASTIC SYNDROME

MYELODYSPLASTIC SYNDROME

0.010

1.000

2014