1. Gene
  2. TFRC - transferrin receptor Gene

TFRC - transferrin receptor Gene

Homo sapiens

Also known as T9; TR; TFR; p90; CD71; TFR1; TRFR; IMD46

Gene ID: 7037 | Gene type: protein coding

About TFRC

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,049,284-196,082,090 (from NCBI)

This gene has 38 transcripts (splice variants), 283 orthologues, 5 paralogues and is associated with 60 phenotypes. Broad expression in bone marrow (RPKM 101.5), placenta (RPKM 60.5) and 23 other tissues.

Summary

This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

TFRC Products(4)

mRNA Protein Name
NM_001128148.3 NP_001121620.1 transferrin receptor protein 1 isoform 1
NM_001313965.2 NP_001300894.1 transferrin receptor protein 1 isoform 2
NM_001313966.2 NP_001300895.1 transferrin receptor protein 1 isoform 3
NM_003234.4 NP_003225.2 transferrin receptor protein 1 isoform 1

TFRC Protein Structure

PA

PA: PA domain (225 - 290)

Peptidase_M28

Peptidase_M28: Peptidase family M28 (402 - 573)

TFR_dimer

TFR_dimer: Transferrin receptor-like dimerisation domain (637 - 751)

  • 0
  • 200
  • 400
  • 600
  • 760 a.a.
Protein Preferred Names Protein Names

transferrin receptor protein 1

Recombinant TFRC Proteins

Cat. No. Product Name Accession Purity
HY-P71069 TFRC Protein, Human (HEK293, His) P02786 (L101-F760) ≥95%
HY-P74526 TFRC Protein, Human (HEK293, hFc) P02786 (C89-F760) ≥95%
HY-P78523 TFRC Protein, Human (HEK293, His-Avi) P02786 (C89-F760) ≥95%
HY-P78905 TFRC Protein, Human (Biotinylated, HEK293, His) AAH01188 (C89-F760) ≥95%
HY-P700841 TFRC Protein, Human (Biotinylated, HEK293, His-Avi) P02786 (C89-F760) ≥95%

Related Diseases

Diseases Alias
Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Combined T And B Cell Immunodeficiency
Iron Deficiency Anemia

Iron-Deficiency Anemia

Fe Deficiency Anaemia

Ida - [Iron Deficiency Anemia]

Fe - [Iron] Deficiency Anemia Nos

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

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

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis

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

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]

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

Ehrlichiosis

Human Ehrlichiosis

He

Hey

Erythroleukemia
Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis

Hge

Human Ehrlichial Infection, Human Granulocytic Type

Human Anaplasmosis Due To Anaplasma Phagocytophilum

Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae

Gastric Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Stomach

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

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

Brain Cancer

Adult Brain Tumor

Malignant Neoplasm Of Brain

Brain Neoplasms

Brain Neoplasm

Neoplasm Of Brain

Primary Malignant Neoplasm Of Brain

Brain Tumors

Adult Malignant Brain Neoplasm

Brain Neoplasm, Adult

Bt - Brain Tumour

Malignant Brain Tumour

Malignant Primary Brain Neoplasm

Malignant Primary Brain Tumor

Malignant Tumor Of Adult Brain

Malignant Tumor Of Brain

Primary Brain Neoplasm

Primary Brain Tumor

Tumor Of The Brain

Brain Tumor, Adult

Brain Tumor Primary

Malignant Primary Brain Tumors

Primary Brain Tumors

Cancer, Brain

Brain Tumor, Primary

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

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

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

Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

Bolivian Hemorrhagic Fever

Machupo Hemorrhagic Fever

Hemorrhagic Fever, Bolivian

Bhf - [Bolivian Haemorrhagic Fever]

Machupo Haemorrhagic Fever

Hemoglobinuria
Hemoglobinopathy

Hemoglobinopathies

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

Hemochromatosis, Type 3

Hemochromatosis Type 3

HFE3

Hemochromatosis Due To Defect In Transferrin Receptor 2

Tfr2-Related Hemochromatosis

Tfr2-Related Hereditary Hemochromatosis

Hemochromatosis 3

Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy

Argentine Hemorrhagic Fever

Argentinian Hemorrhagic Fever

Junin Hemorrhagic Fever

Hemorrhagic Fever, Argentinian

Ahf - [Argentinian Haemorrhagic Fever]

Argentine Haemorrhagic Fever

Junin Haemorrhagic Fever

Brain Edema

Cerebral Edema

Intracranial Swelling

Wet Brain

Atransferrinemia

Familial Hypotransferrinemia

Congenital Atransferrinemia

Hypotransferrinemia, Familial

Congenital Hypotransferrinemia

ATRAF

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Hemochromatosis Type 2

Juvenile Hemochromatosis

Juvenile Hereditary Hemochromatosis

Hfe2

Jhh

Hemochromatosis Juvenile

Iron Overload Disease Juvenile

Hemochromatosis, Juvenile

Hemochromatosis, Type 2

Hemochromatosis

Hemochromatosis, Type 1

Neutropenia

Leukopenia

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

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Hemochromatosis, Type 4

Hemochromatosis Type 4

Hemochromatosis Due To Defect In Ferroportin

HFE4

Hemochromatosis, Autosomal Dominant

Autosomal Dominant Hereditary Hemochromatosis

Ferroportin Disease

Hemochromatosis 4

Hemochromatosis Autosomal Dominant

Beta-Thalassemia Intermedia
Brazilian Hemorrhagic Fever

Sabia Hemorrhagic Fever

Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders

Dysgerminoma
Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Anemia Of Prematurity
Plasmodium Vivax Malaria

Malaria, Vivax

Malaria By Plasmodium Vivax

Vivax Malaria

Malaria Vivax

Disease By Infectious Agent

Infectious Disease

Infectious Diseases

Mucopolysaccharidosis, Type Ii

Hunter Syndrome

Iduronate 2-Sulfatase Deficiency

Mucopolysaccharidosis Ii

Mps Ii

Mucopolysaccharidosis Type Ii

MPS2

Sulfoiduronate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Ii

Ids Deficiency

Sids Deficiency

I2s Deficiency

Mucopolysaccharidosis Type 2

Mucopolysaccharidosis Type 2, Severe Form

Deficiency Of Iduronate-2-Sulphatase

Hunter'S Syndrome

Mps Ii - Hunter Syndrome

Iduronate-2-Sulfatase Deficiency

Attenuated Mps

Mps 2

Severe Mps Ii

Mpsii

Mucopolysaccharidosis Type 2, Attenuated Form

Hunter Syndrome Type B

Iduronate 2-Sulfatase Deficiency Type B

Mps2b

Mpsiib

Mucopolysaccharidosis Type 2b

Mucopolysaccharidosis Type Ii, Attenuated Form

Mucopolysaccharidosis Type Iib

Hunter Syndrome Type A

Iduronate 2-Sulfatase Deficiency Type A

Mps2a

Mpsiia

Mucopolysaccharidosis Type 2a

Mucopolysaccharidosis Type Ii, Severe Form

Mucopolysaccharidosis Type Iia

Mucopolysaccharidosis 2

Hunters Syndrome

Iduronate 2-Sulphatase Deficiency

Iduronate Sulfatase Deficiency

Iduronate Sulphatase Deficiency

Sulfo-Iduronate Sulfatase Deficiency

Sulfoiduronidate Sulfatase Deficiency

Sulpho-Iduronate Sulphatase Deficiency

Sulphoiduronidate Sulphatase Deficiency

Mps2 - [Mucopolysaccharidosis 2]

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia

Human Immunodeficiency Virus Type 1

Aids

Hiv/Aids

Aids, Delayed/Rapid Progression To

Hiv-1, Susceptibility To

Hiv-1 Viremia, Susceptibility To

Human Immunodeficiency Virus Type 1, Susceptibility To

Hiv-1

Aids, Slow Progression To

Rapid Progression To Aids From Hiv1 Infection

Hiv1 Infection, Resistance To

Hiv1 Infection

Hiv-1 Viremia

Aids, Resistance To

Aids, Rapid Progression To

Hiv/Aids, Susceptibility To

Hiv-1, Resistance To

Hiv1, Resistance To

Hiv1

Hiv-1 Disease, Delayed Progression Of

Hiv-1 Disease, Rapid Progression Of

Hiv Infection, Resistance To

Hiv Type 1, Susceptibility To

Hiv Type 1

Hiv-1 Infection

Human Immunodeficiency Virus I Infection

Acquired Immunodeficiency Syndrome

Hiv-Infection/Aids

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Hemosiderosis

Haemosiderosis

Iron Overload

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Occlusion Of Gallbladder

Obstruction Of Gallbladder

Gallbladder Obstruction

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

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]

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

Retinal Degeneration

Degeneration Of Retina

Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Hemoglobin H Disease

HBH

Hemoglobin H Disease, Nondeletional

Hemoglobin H Disease, Deletional

Alpha-Thalassemia Intermedia

Haemoglobin H Disease

Alpha-Thalassemia, Hemoglobin H Type

Hemoglobin H Disease, Deletional And Nondeletional

Alpha Thalassemia, Haemoglobin H Type

Alpha Thalassemia, Hemoglobin H Type

Haemoglobin H Disease, Deletional

Hbh Disease

Alpha-Thalassemia Hemoglobin H Type

Hemoglobin H Disease Deletional

Hemoglobin H Disease Non-Deletional

Alpha-Thalassemia

Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

Alpha Thalassaemia Intermedia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Parasitic Protozoa Infectious Disease

Protozoan Infections

Mastigophora Infectious Disease

Sarcomastigophora Infectious Disease

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Spastic Paraplegia 38, Autosomal Dominant

SPG38

Hereditary Spastic Paraplegia 38

Autosomal Dominant Spastic Paraplegia Type 38

Autosomal Dominant Spastic Paraplegia 38

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Subacute Leukemia
Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Flying Phobia

Aerophobia

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

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

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Canis familiaris TFRC VGNC VGNC:47305
Rattus norvegicus TFRC RGD RGD:70488
Mus musculus TFRC MGD MGI:98822
Bos taurus TFRC VGNC VGNC:35797
Macaca mulatta TFRC VGNC VGNC:78330
Felis catus TFRC VGNC VGNC:66127
Macaca fascicularis TFRC NCBI
Others TFRC NCBI