1. Gene
  2. HBB - hemoglobin subunit beta Gene

HBB - hemoglobin subunit beta Gene

中文名称:血红蛋白β亚基

种属: Homo sapiens

同用名: ECYT6; CD113t-C; beta-globin

基因 ID: 3043 | 基因类型: protein coding

关于 HBB

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,225,464-5,227,071 (from NCBI)

This gene has 6 transcripts (splice variants), 525 orthologues, 11 paralogues and is associated with 28 phenotypes.

功能概要

α (HBA) 和β (HBB) 位点决定了成人血红蛋白 Hb A 中两种多肽链的结构。正常的成人血红蛋白四聚体由两条 α 链和两条 β 链组成。突变的 β 珠蛋白会导致镰状细胞性贫血。缺乏β链会导致β-零地中海贫血。可检测到的 β 珠蛋白数量减少会导致 β 加地中海贫血。 β-珠蛋白簇中基因的顺序是 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'。[RefSeq 提供,2008 年 7 月]

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

HBB 基因产物(1)

mRNA Protein Name
NM_000518.5 NP_000509.1 hemoglobin subunit beta

HBB 蛋白结构

Globin

Globin: Globin (8 - 112)

  • 0
  • 100
  • 147 a.a.
蛋白主名 其他名称

hemoglobin subunit beta

beta globin chain

关联疾病

疾病名称 别名
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]

Beta-Thalassemia, Dominant Inclusion Body Type

Dominant Beta-Thalassemia

Thalassemia-Beta, Dominant Inclusion-Body

Dyserythropoietic Anemia, Congenital, Irish Or Weatherall Type

Inclusion Body Beta-Thalassemia

Beta-Thalassemia, Dominant, Inclusion Body Type

B-THALIB

Beta Thalassemia Dominant Inclusion Body Type

Dyserythropoietic Anemia Congenital Irish Or Weatherall Type

Beta-Plus-Thalassemia, Dominant

Thalassemia, Beta, Dominant Inclusion Body Type

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

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

Heinz Body Anemias

Heinz Body Anemia

Heinz Body Anemias, Alpha-

HEIBAN

Anemia, Heinz Body

Acquired Heinz Body Anemia

Erythrocytosis, Familial, 6

ECYT6

Erythrocytosis 6

Familial Erythrocytosis 6

Erythrocytosis, Beta-Globin Type

Polycythemia, Beta-Globin Type

Beta-Globin Type Erythrocytosis

Beta-Globin Type Polycythemia

Methemoglobinemia, Beta Type
Methemoglobinemia, Beta-Globin Type

Hemoglobin M Disease

Blue Baby Syndrome

M Hemoglobinopathy

Congenital Methemoglobinemia

Autosomal Dominant Methemoglobinemia

Hereditary Methemoglobinemia Due To Hemoglobin Mutation

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

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

Hemoglobin C Disease

Hb C Disease

Hemoglobin C

Hb-C Disease

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

Hemoglobin D Disease

Hb-D Disease

Punjab Disease

Los Angeles Disease

Hb D Los Angeles Disease

Hb D Punjab Disease

Hemoglobin E-Beta-Thalassemia Syndrome

Hemoglobin E/Beta Thalassemia Disease

E-Beta-Thalassemia

Hbe-Beta-Thalassemia Syndrome

Hemoglobinopathy

Hemoglobinopathies

Sickle Cell Disease

Hbs Disease

Hemoglobin S Disease

Scd

Sickle Cell Disorders

Sickling Disorder Due To Hemoglobin S

Anemia, Sickle Cell

Hb-Ss Disease Without Crisis

Hbss Without Crisis

Sickle-Cell Anaemia Without Crisis

Scd - [Sickle Cell Disease]

Sca - [Sickle Cell Anaemia]

Sickle Cell Disease Nos

Sickle Cell Disorder

Sickle Cell Syndrome

Sickle-Cell Anaemia Nos

Sickle-Cell Disorder Nos

Haemoglobin S Disease

Haemoglobin Ss Disease

Hb S Disease

Hb Ss Disease

Herrick Anaemia

Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

Sickle-Cell Haemoglobin Disease

Sickling Disorder Due To Haemoglobin S

Hb-Ss Disease With Crisis

Sickle Cell Crisis

Sickle-Cell Disorder With Crisis

Sickle-Cell Anaemia With Crisis

Hbss With Crisis

Hb S Disease With Mention Of Crisis

Haemoglobin Ss Disease With Crisis

Hb-Ss Disease With Vaso-Occlusive Pain

Vaso-Occlusive Crisis

Hemoglobin Se Disease

Hemoglobin S

Anemia, Sickle Cell

Sickle Cell Disease And Related Diseases
Beta-Thalassemia Intermedia
Sickle Beta Thalassemia

Hbs-Beta-Thalassemia Syndrome

Sickle Cell-Beta-Thalassemia Disease Syndrome

Sickle Cell-Beta-Thalassemia

Hb S Beta-Thalassemia

Hbs - Beta-Thalassemia

Hemoglobin Sickle-Beta Thalassemia

Sickle Cell - Beta-Thalassemia Disease

Sickle Cell Beta Plus Thalassemia

Hemoglobin C-Beta-Thalassemia Syndrome

C-Beta-Thalassemia

Hbc-Beta-Thalassemia Syndrome

Hemoglobin Lepore-Beta-Thalassemia Syndrome

Hblepore-Beta-Thalassemia Syndrome

Lepore-Beta-Thalassemia Syndrome

Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Hpfh-Beta-Thalassemia Syndrome

Sickle Cell - Hemoglobin D Disease

Hbsd Disease

Sickle Cell-Hemoglobin D Disease Syndrome

Sickle Cell-Hemoglobin D Disease

Hemoglobin Sd Disease

Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Hpfh-Sickle Cell Disease Syndrome

Sickle Cell-Hemoglobin E Disease Syndrome

Hbse Disease

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Autosomal Dominant Secondary Polycythemia

Autosomal Dominant Secondary Erythrocytosis

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
Splenic Infarction

Splenic Infarct

Splenic Infarcts

Infarct Of The Spleen

Acute Chest Syndrome

Acute Chest Syndrome In Sickle Cell Disease

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Erythroleukemia
Histiocytosis-Lymphadenopathy Plus Syndrome

H Syndrome

Histiocytosis With Joint Contractures And Sensorineural Deafness

Faisalabad Histiocytosis

Shml

Hjcd

Rosai-Dorfman Disease

Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus

Phid

Sinus Histiocytosis And Massive Lymphadenopathy

Familial Rosai-Dorfman Disease

Slc29a3 Spectrum Disorder

Sinus Histiocytosis With Massive Lymphadenopathy

Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness

Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss

Rosai-Dorfman Disease, Familial

Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss

Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness

Rdd

Rosaï-Dorfman Disease

Slc29a3 Disorder

Destombes-Rosai-Dorfman Disease

Rosai-Dorfman-Destombes Disease

HLAS

Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss

Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness

H Disease

Sinus Histiocytosis

Methemoglobinemia
Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Plasmodium Falciparum Malaria

Falciparum Malaria

Malaria, Falciparum

Malaria Fever, Subtertian

Malignant Tertian Fever

Malaria Falciparum

Cerebral Malaria Nos

Cerebral Malaria

Glutathione Peroxidase Deficiency

GPXD

Hemolytic Anemia Due To Glutathione Peroxidase Deficiency

Gluthathione Peroxidase Deficiency

Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude

Splenic Sequestration
Cholelithiasis
Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Kidney Papillary Necrosis

Necrotizing Renal Papillitis

Papillary Necrosis

Renal Papillitis Necrotizing

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

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

Thrombotic Thrombocytopenic Purpura

Purpura, Thrombotic Thrombocytopenic

Ttp

Thrombotic Thrombocytopenic Purpura, Acquired

Idiopathic Thrombotic Thrombocytopenic Purpura

Moschcowitz Disease

Moschcowitz'S Syndrome

Moschowitz Syndrome

Chronic Relapsing Thrombotic Thrombocytopenic Purpura

Familial Thrombotic Thrombocytopenia Purpura

Moschkowitz Disease

Purpura Thrombotic Thrombocytopenic

Familial Thrombotic Thrombocytopenic Purpura

Microangiopathic Hemolytic Anemia

Congenital Thrombotic Thrombocytopenic Purpura

Autoimmune Thrombotic Thrombocytopenic Purpura

Ttp - [Thrombotic Thrombocytopenic Purpura]

Moschcowitz Syndrome

Penile Disease

Penile Diseases

Aneruptive Fever

Rickettsia Helvetica Spotted Fever

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

Trachoma

Trachoma Dubium

Active Stage Trachoma

Trachoma, Active Stage

Trachoma, Initial Stage

Egyptian Ophthalmia

Trachoma Pannus

Marginal Corneal Pannus

Trachomatous Pannus

Diabetes Mellitus

Diabetes

Splenomegaly
Middle Lobe Syndrome
Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

Priapism

Mentulagra

Priapism, Familial Idiopathic

Familial Idiopathic Priapism

Pathologic Erection

Painful Erection

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome

MCOPS13

Maine Microphthalmos

Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation

Syndromic Microphthalmia 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome

Microphthalmia, Syndromic, 13

Microphthalmia, Syndromic, Type 13

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Erythrocytosis, Familial, 1

ECYT1

Pfcp

Primary Familial And Congenital Polycythemia

Familial Erythrocytosis 1

Familial Erythrocytosis

Polycythemia, Primary Familial And Congenital

Autosomal Dominant Benign Erythrocytosis

Familial Erythrocytosis Type 1

Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

Congenital Polycythemia Due To Erythropoietin Receptor Mutation

Primary Congenital Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Autosomal Dominant Benign

Erythrocytosis, Somatic

Autosomal Dominant Familial Erythrocytosis-1

Erythrocytosis Autosomal Dominant Benign

Familial Primary Polycythemia

Familial Erythrocytosis, 1

Erythrocytosis, Familial, Type 1

Febrile Seizures, Familial, 6

FEB6

Familial Febrile Seizures 6

Convulsions, Familial Febrile, 6

Familial Febrile Convulsions 6

Febrile Convulsions, Familial, 6

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia

Tay-Sachs Disease

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

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

Physical Disorder

Physical Illness

Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

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

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Parasitic Protozoa Infectious Disease

Protozoan Infections

Mastigophora Infectious Disease

Sarcomastigophora Infectious Disease

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Factor Viii Deficiency

Autosomal Hemophilia A

Hemophilia A

Autosomal Factor Viii Deficiency

Classic Hemophilia A

Congenital Factor Viii Disorder

Subhemophilia

Factor 8 Deficiency, Congenital

Factor Viii

Osteopetrosis, Autosomal Recessive 6

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HBB RGD RGD:2783
Mus musculus HBB NCBI
Others HBB NCBI