1. Gene
  2. GATA1 - GATA binding protein 1 Gene

GATA1 - GATA binding protein 1 Gene

Homo sapiens

Also known as GF1; GF-1; NFE1; XLTT; ERYF1; NF-E1; XLANP; XLTDA; GATA-1; HAEADA

Gene ID: 2623 | Gene type: protein coding

About GATA1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,786,590-48,794,311 (from NCBI)

This gene has 6 transcripts (splice variants), 224 orthologues, 7 paralogues and is associated with 82 phenotypes. Biased expression in bone marrow (RPKM 18.9) and placenta (RPKM 0.5).

Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

GATA1 Products(1)

mRNA Protein Name
NM_002049.4 NP_002040.1 erythroid transcription factor

GATA1 Protein Structure

GATA

GATA: GATA zinc finger (204 - 237)

GATA

GATA: GATA zinc finger (258 - 291)

  • 0
  • 100
  • 200
  • 300
  • 413 a.a.
Protein Preferred Names Protein Names

erythroid transcription factor

GATA-binding factor 1

Related Diseases

Diseases Alias
Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia

XDAT

XLTDA

Thrombocytopenia With Congenital Dyserythropoietic Anemia

Congenital Dyserythropoietic Anemia With Thombocytopenia

X-Linked Congenital Dyserythropoietic Anemia With Thrombocytopenia

X-Linked Dyserythropoietic Anemia And Thrombocytopenia

Thrombocytopenia, X-Linked, With Dyserythropoietic Anemia

Thrombocytopenia, X-Linked, Without Dyserythropoietic Anemia

Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities

X-Linked Dyserythropoietic Anemia

X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia

XLANP

Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities

X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities

Anemia Without Thrombocytopenia, X-Linked

XLAWT

Anemia X-Linked With Variable Neutropenia

Adenosine Deaminase, Elevated, Hemolytic Anemia Due To

HAEADA

Erythrocyte Ada, Elevated, Hemolytic Anemia Due To

Hemolytic Anemia Due To Elevated Adenosine Deaminase

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome

Acute Megakaryoblastic Leukemia In Down Syndrome

Ds-Amkl

Hemolytic Anemia Due To Erythrocyte Adenosine Deaminase Overproduction
Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Acute Basophilic Leukemia
Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria

Gunther Disease

CEP

Uros Deficiency

Günther Disease

Uroporphyrinogen Iii Synthase Deficiency

Congenital Porphyria

Uroporphyrinogen Iii Synthase, Deficiency Of

Porphyria, Erythropoietic, Congenital

Porphyria, Erythropoietic

Deficiency Of Uroporphyrinogen Iii Synthase

Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia

Dyserythropoietic Anemia And Thrombocytopenia

Dyserythropoietic Anemia With Thrombocytopenia

Gata-1-Related Thrombocytopenia With Dyserythropoiesis

Gata1-Related Cytopenia

Gata1-Related X-Linked Cytopenia

X-Linked Macrothrombocytopenia

Macrothrombocytopenia, X-Linked

Erythroleukemia
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Thalassemia

Sickle-Cell Thalassemia With Crisis

Sickle-Cell Thalassemia Without Crisis

Thalassemia Hb-S Disease With Crisis

Thalassemia Hb-S Disease Without Crisis

Thalassemias

Hereditary Leptocytosis

Haemoglobin Thalassaemia Disorder

Thalassaemia Syndrome

Thalassaemia Nos

Thalassemia Variants

Thalassemia Minor
Myeloid Leukemia Associated With Down Syndrome
Myelofibrosis

Primary Myelofibrosis

Agnogenic Myeloid Metaplasia

Idiopathic Myelofibrosis

Myeloid Metaplasia

Myelofibrosis With Myeloid Metaplasia

Osteomyelofibrosis

Megakaryocytic Myelosclerosis

Myelosclerosis

Chronic Idiopathic Myelofibrosis

Myelofibrosis, Idiopathic

Myelofibrosis With Myeloid Metaplasia, Somatic

Myelofibrosis, Somatic

Aleukemic Myelosis

Bone Marrow Fibrosis

MYELOF

MMM

Agnogenic Myeloid Metaplasia With Myelofibrosis

Ammm

Myelosclerosis With Myeloid Metaplasia

Myelofibrosis Nos

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4

Neonatal Leukemia
Thrombocytopenia 1

Xlt

THC1

Thrombocytopenia, X-Linked

Thrombocytopenia, X-Linked, Intermittent

X-Linked Thrombocytopenia

X-Linked Thrombocytopenia With Normal Platelets

Thc

Thrombocytopenia, X-Linked, 1

Thrombocytopenia X-Linked

Thrombocytopenia X-Linked 1

Porphyria

Hematoporphyria

Porphyrias

Disorder Of Porphyrin And Hem Metabolism

Disorder Of Porphyrin Metabolism

Porphyrinopathy

Porphyrin Disorder

Disorder Of Porphyrin And Heme Metabolism

Disorders Of Porphyrin Metabolism

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

Acute Erythroid Leukemia

Acute Erythroleukemia

Di Guglielmo'S Syndrome

Aml M6

Acute Myeloid Leukemia Fab-M6

Acute Myeloid Leukemia M6

Erythroleukemia

Aml-M6

Acute Erythroleukemia M6a Subtype

Acute Erythroleukemia M6b Subtype

Di Guglielmo Syndrome

Acute Myeloid Leukemia, M6 Type

Acute Erythroblastic Leukemia

Acute Erythroleukemia - M6a Subtype

Acute Erythroleukemia - M6b Subtype

Acute Erythraemia And Erythroleukaemia

Acute Erythroid Leukaemia Without Mention Of Remission

Erythraemia

Erythraemic Myelosis

Erythroleukaemia

Acute Erythraemic Myelosis

Acute Erythraemia

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Essential Thrombocythemia

Essential Thrombocytosis

Familial Thrombocytosis

Hemorrhagic Thrombocythemia

Hereditary Thrombocythemia

Primary Thrombocytosis

Idiopathic Thrombocythemia

Primary Thrombocythemia

Thrombocythemia, Essential

Essential Thrombocythaemia

Et

Familial Thrombocythemia

Thrombocythemia Essential

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anh1

Hereditary Iron-Loading Anemia

Anemia, Sideroblastic, X-Linked

Anemia, Hereditary Sideroblastic

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Anemia, Congenital Dyserythropoietic, Type Iv

CDAN4

Congenital Dyserythropoietic Anemia Type Iv

Congenital Dyserythropoietic Anemia Type 4

Cda Iv

Cda Due To Klf1 Mutation

Cda Type 4

Cda Type Iv

Congenital Dyserythropoietic Anemia Due To Klf1 Mutation

Cda, Type Iv

Dyserythropoietic Anemia, Congenital, Type Iv

Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation

Congenital Dyserythropoietic Anaemia Type 4

Congenital Dyserythropoietic Anaemia Type Iv

Anemia, Congenital Dyserythropoietic, 4

Anemia, Dyserythropoietic Congenital, Type Iv

Anemia, Dyserythropoietic, Congenital, Type Iv

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Alzheimer Disease 19

AD19

Alzheimer'S Disease 19

Alzheimer Disease 19, Late-Onset

Alzheimer Disease 19 Late Onset

Late-Onset Alzheimer Disease

Alzheimer Disease, Late Onset, Susceptibility To, Type 19

Alzheimer Disease, Late Onset

Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude

Chromosomal Duplication Syndrome
Anemia, Congenital Dyserythropoietic, Type Iiia

Congenital Dyserythropoietic Anemia, Type Iii

Cdan3

Congenital Dyserythropoietic Anemia Type Iii

Cda Iii

Congenital Dyserythropoietic Anemia Type 3

CDAN3A

Dyserythropoietic Anemia, Congenital, Type Iiia

Cda, Type Iiia

Anemia, Congenital Dyserythropoietic, Type Iii

Anemia With Multinucleated Erythroblasts

Cda Type 3

Cda Type Iii

Dyserythropoietic Anemia, Congenital Type 3

Cda, Type Iii

Erythroreticulosis, Hereditary Benign

Anaemia With Multinucleated Erythroblasts

Congenital Dyserythropoietic Anaemia Type 3

Congenital Dyserythropoietic Anaemia Type Iii

Hereditary Benign Erythroreticulosis

Anemia, Congenital Dyserythropoietic, 3a

Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign

Pseudo-Von Willebrand Disease

Bdplt3

Von Willebrand Disease, Platelet-Type

VWDP

Platelet-Type Bleeding Disorder 3

Platelet Type-Von Willebrand Disease

Pt-Vwd

Von Willebrand Disease Platelet-Type

Von Willebrand Disease, Platelet Type

Pseudo Von Willebrand Disease

Bleeding Disorder, Platelet-Type, 3

Pseudo-Von Willebrand Disease Type 2b

Bleeding Disorder Platelet-Type 3

Pseudo-Vwd

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome

Monomac

Gata2 Deficiency

Monocytopenia With Susceptibility To Infections

Dcml

IMD21

Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

Monocyte - B - Natural Killer - Dendritic Cell Deficiency

Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital

Plasmodium Vivax Malaria

Malaria, Vivax

Malaria By Plasmodium Vivax

Vivax Malaria

Malaria Vivax

Anemia, Congenital Dyserythropoietic, Type Ib

CDAN1B

Congenital Dyserythropoietic Anemia Type Ib

Cda, Type Ib

Congenital Dyserythropoietic Anemia Type Type 1b

Dyserythropoietic Anemia, Congenital, Type Ib

Anemia, Congenital Dyserythropoietic, 1b

Cda Ib

Anemia, Dyserythropoietic, Congenital

Anemia, Dyserythropoietic, Congenital, Type Ib

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria

HEP

Uroporphyrinogen Decarboxylase Deficiency

Pct

Pct, Type Ii

Porphyria, Hepatocutaneous Type

Urod Deficiency

Porphyria, Hepatoerythropoietic

Porphyria Cutanea Tarda, Susceptibility To

Familial Porphyria Cutanea Tarda

Porphyria Cutanea Tarda, Type Ii

Pct, 'Familial' Type

Porphyria, Hepatic

FPCT

Pct Type Ii

Porphyria Cutanea Tarda Type Ii

Porphyria Hepatocutaneous Type

Heterozygous Uroporphyrinogen Decarboxylase Deficiency

Urod - [Uroporphyrinogen Decarboxylase] Deficiency

Pct - [Porphyria Cutanea Tarda]

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii

CDAN2

Cda Ii

Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test

Cda Type Ii

Congenital Dyserythropoietic Anemia Type 2

Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test

Sec23b-Cdg

Congenital Dyserythropoietic Anemia, Type Ii

Dyserythropoietic Anemia, Hempas Type

Hempas

Cda Type 2

Dyserythropoietic Anemia, Congenital, Type Ii

Cda, Type Ii

Congenital Dyserythropoietic Anaemia Type 2

Congenital Dyserythropoietic Anaemia Type Ii

Anemia, Dyserythropoietic, Congenital Type 2

Hempas Anemia

Dyserythropoietic Anemia, Congenital Type 2

Anemia, Congenital Dyserythropoietic, 2

Dyserythropoietic Anemia Hempas Type

Anemia, Dyserythropoietic Congenital, Type Ii

Anemia, Dyserythropoietic, Congenital, Type Ii

Diamond-Blackfan Anemia 11

DBA11

Rpl26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 11

Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Alpha-Thalassemia Myelodysplasia Syndrome

ATMDS

Acquired Hemoglobin H Disease

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Acquired Hbh Disease

Alpha-Thalassemia-Myelodysplastic Syndrome

Hemoglobin H Disease, Acquired

Acquired Alpha-Thalassemia With Myelodysplastic Syndrome

Hemoglobin H Disease Acquired

Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Hemoglobinopathy

Hemoglobinopathies

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Childhood Leukemia
Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Bernard-Soulier Syndrome

Giant Platelet Syndrome

BSS

Von Willebrand Factor Receptor Deficiency

Bdplt1

Platelet Glycoprotein Ib Deficiency

Bernard-Soulier Syndrome, Type A1

Bernard-Soulier Syndrome, Type B

Bernard Soulier Syndrome

Deficiency Of Platelet Glycoprotein 1b

Hemorrhagiparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type C

Bleeding Disorder, Platelet-Type, 1

Glycoprotein Ib, Platelet, Deficiency Of

Giant Platelet Disorder, Isolated

Giant Platelet Disease

Macrothrombocytopenia, Familial Bernard-Soulier Type

Bernard-Soulier Syndrome, Type C

Bernard - Soulier Thrombopathy

Hemorrhagic Dystrophic Thrombocytopenia

Thrombopathy, Bernard-Soulier

Platelet Glycoprotein 1b, Deficiency Of

Hemorrhagioparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type A1

Bernard-Soulier Syndrome Type B

Bleeding Disorder Platelet-Type 1

Gpd

Macrothrombocytopenia, Familial, Bernard-Soulier Type

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta GATA1 VGNC VGNC:72887
Mus musculus GATA1 MGD MGI:95661
Felis catus GATA1 VGNC VGNC:62473
Bos taurus GATA1 VGNC VGNC:29265
Rattus norvegicus GATA1 RGD RGD:2663