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MCID: HMG003
MIFTS: 45

Hemoglobin E Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hemoglobin E Disease

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MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 74 52 58 29 6 15 71
Hemoglobin E 29 6
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

58
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:5379
NCIt 49 C35287
SNOMED-CT 67 25065001
ICD10 32 D58.2
ICD10 via Orphanet 33 D58.2
UMLS via Orphanet 72 C0238159
Orphanet 58 ORPHA2133
UMLS 71 C0238159
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Summaries for Hemoglobin E Disease

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NIH Rare Diseases : 52 Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin , called hemoglobin E. People with this condition may have very mild anemia , but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene . The mutation that causes hemoglobin E disease primarily occurs in Southeast Asian populations, and rarely in Chinese populations. Most people with HbE disease do not need any treatment.

MalaCards based summary : Hemoglobin E Disease, also known as hemoglobin e, is related to glucosephosphate dehydrogenase deficiency and beta-thalassemia. An important gene associated with Hemoglobin E Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Folate Metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and endothelial.

Wikipedia : 74 Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26... more...

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Related Diseases for Hemoglobin E Disease

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Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin E Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 30.3 HBE1 HBB
2 beta-thalassemia 30.2 HBE1 HBD HBB F2
3 methemoglobinemia 30.0 LOC107133510 LOC106099062 HBB
4 sickle cell disease 30.0 HBD HBB
5 mitral valve stenosis 29.8 SERPINA3 F2
6 hereditary elliptocytosis 29.7 HBE1 HBB
7 splenic sequestration 29.5 SCN2A HBB F2
8 thalassemia 29.3 LOC106099062 HBQ1 HBE1 HBD HBB F2
9 fetal hemoglobin quantitative trait locus 1 29.3 LOC107133510 LOC106099062 HBD HBB
10 congenital hemolytic anemia 28.3 SCN2A HBQ1 HBE1 HBD HBB
11 hemoglobinopathy 27.8 SCN2A LOC107133510 LOC106099062 HBQ1 HBE1 HBD
12 hemoglobin h disease 27.4 SCN2A HBQ1 HBE1 HBD HBB BCS1L
13 alpha-thalassemia 26.7 SCN2A LOC107133510 LOC106099062 HBQ1 HBE1 HBD
14 hemoglobin se disease 11.7
15 orbital osteomyelitis 10.3 HBB F2
16 splenic infarction 10.3 HBB F2
17 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBD HBB
18 neuropathy, hereditary sensory and autonomic, type iib 10.2 HBD HBB
19 spherocytosis, type 4 10.2 HBE1 HBB
20 spherocytosis, type 3 10.2 HBE1 HBB
21 deficiency anemia 10.2
22 splenomegaly 10.2
23 hypotrichosis 2 10.2 HBE1 HBB
24 hepatitis d 10.1 HBE1 F2
25 giant hemangioma 10.1 SERPINA3 F2
26 central nervous system origin vertigo 10.1 SCN2A F2
27 trachoma 10.1 SERPINA3 HBB
28 papilledema 10.1 SERPINA3 F2
29 hemoglobin zurich 10.1 LOC107133510 LOC106099062 HBB
30 methemoglobinemia, beta type 10.1 LOC107133510 LOC106099062 HBB
31 siderosis 10.1 SERPINA3 HBB
32 cecal disease 10.1 SERPINA3 F2
33 beta-thalassemia, dominant inclusion body type 10.1 LOC107133510 LOC106099062 HBB
34 heinz body anemias 10.1 HBQ1 HBB
35 methemoglobinemia, beta-globin type 10.1 LOC107133510 LOC106099062 HBB
36 aspiration pneumonia 10.1 SERPINA3 F2
37 trichuriasis 10.1 SERPINA3 HBE1
38 plasma protein metabolism disease 10.0 SERPINA3 F2
39 pulmonary artery disease 10.0 SERPINA3 F2
40 anemia, hypochromic microcytic, with iron overload 1 10.0
41 hypochromic microcytic anemia 10.0
42 microcytic anemia 10.0
43 iron deficiency anemia 10.0
44 syphilis 10.0 SERPINA3 F2
45 partial motor epilepsy 10.0 SERPINA3 SCN2A
46 vein disease 10.0 SERPINA3 F2
47 hemosiderosis 10.0
48 congestive heart failure 10.0
49 rare hereditary hemochromatosis 10.0
50 intracranial hypertension 10.0 SERPINA3 F2

Graphical network of the top 20 diseases related to Hemoglobin E Disease:



Diseases related to Hemoglobin E Disease
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Symptoms & Phenotypes for Hemoglobin E Disease

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Drugs & Therapeutics for Hemoglobin E Disease

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Drugs for Hemoglobin E Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies Phase 2
3 Immunoglobulins, Intravenous Phase 2
4 Immunologic Factors Phase 2
5 Immunoglobulin Fc Fragments Phase 2
6
Acetylcysteine Approved, Investigational 616-91-1 12035
7
Deferiprone Approved 30652-11-0 2972
8
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
9
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
10
Artesunate Approved, Investigational 88495-63-0 6917864 5464098
11
Mefloquine Approved, Investigational 53230-10-7 4046
12
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
13 Tocotrienol Investigational 6829-55-6
14
Piperaquine Experimental, Investigational 4085-31-8 5079497
15 Trace Elements
16 Micronutrients
17 Respiratory System Agents
18 Vitamins
19 Antidotes
20 Antioxidants
21 Chelating Agents
22 Anti-Infective Agents
23 Nutrients
24 Iron Chelating Agents
25 Expectorants
26 Tocopherols
27 Antiviral Agents
28 Tocotrienols
29 Protective Agents
30 N-monoacetylcystine
31 Artemisinins
32 Artemisinine
33 Antimalarials

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo
2 An Open Label Academic Phase 2 Study of SDMB in Subjects in Thailand With Beta Thalassemia Intermedia Completed NCT01609595 Phase 2 sodium 2,2 dimethylbutyrate
3 A Phase 2A Open-label Multicenter Study to Evaluate the Safety and Pharmacokinetics of Luspatercept in Pediatric Subjects Who Require Regular Red Blood Cell Transfusions Due to B-Thalassemia Recruiting NCT04143724 Phase 2 ACE-536;ACE-536
4 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
5 Effect of Antioxidant Cocktail in Beta-thalassemia/Hb E Patients Completed NCT01597765 curcuminoids, N-acetylcysteine, deferiprone and vitamin E;Curcuminoids and alpha-tocopherol
6 Plasmodium Falciparum Clearance Rates in Response to Artesunate in Eastern Cambodia Completed NCT01240603
7 Studies of P. Vivax and P. Falciparum Malaria in Cambodia Completed NCT00663546
8 Multidisciplinary Studies of Severe Malaria and Antimalarial Drug Resistance in Cambodia Completed NCT00341003

Search NIH Clinical Center for Hemoglobin E Disease

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Genetic Tests for Hemoglobin E Disease

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Genetic tests related to Hemoglobin E Disease:

# Genetic test Affiliating Genes
1 Hemoglobin E 29
2 Hemoglobin E Disease 29
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Anatomical Context for Hemoglobin E Disease

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MalaCards organs/tissues related to Hemoglobin E Disease:

40
Testes, Bone, Endothelial, Bone Marrow, Heart, Colon, Spinal Cord
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Publications for Hemoglobin E Disease

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Articles related to Hemoglobin E Disease:

(show top 50) (show all 576)
# Title Authors PMID Year
1
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. 61 6
15114532 2004
2
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
3
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 61 6
12149194 2002
4
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 6 61
8839873 1996
5
Sickle cell-hemoglobin E disease: clinical findings and implications. 61 6
1960615 1991
6
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 61 6
7395858 1980
7
Interaction of malaria with a common form of severe thalassemia in an Asian population. 6
19841268 2009
8
Global epidemiology of haemoglobin disorders and derived service indicators. 6
18568278 2008
9
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
10
Genotypes and phenotypes--another lesson from the hemoglobinopathies. 6
15470211 2004
11
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 6
15481886 2004
12
Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient. 6
11791874 2001
13
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
14
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
15
The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia. 6
8718699 1995
16
Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6 (T----C) 6
2283299 1990
17
Direct detection of haemoglobin E with MnlI. 6
3031297 1987
18
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6
6280057 1982
19
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. 6
6275383 1982
20
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 6
4351905 1973
21
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. 6
5658717 1968
22
Hemoglobin G Saskatoon: beta-22Glu--Ala. 6
6021187 1967
23
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. 6
13716853 1961
24
A decision support scheme for beta thalassemia and HbE carrier screening. 61
32368356 2020
25
Hemoglobin-bound platelets correlate with the increased platelet activity in hemoglobin E/β-thalassemia. 61
32539231 2020
26
Risk stratification in patients hospitalized for acute heart failure in Asian population. 61
32510902 2020
27
Effect of point mutation on structure-function correlation of hemoglobin variants, HbE and HbD Punjab. 61
32468185 2020
28
The Homozygous Hemoglobin EE Variant Is Associated with Poorer Riboflavin Status in Cambodian Women of Reproductive Age. 61
32433728 2020
29
Paper-based microchip electrophoresis for point-of-care hemoglobin testing. 61
32123889 2020
30
Detecting HbE Gene Using DNA Extracted from Urine Sediments by Chelex-plus-Heating Technique. 61
32382254 2020
31
Visual genotyping of thalassemia by using pyrrolidinyl peptide nucleic acid probes immobilized on carboxymethylcellulose-modified paper and enzyme-induced pigmentation. 61
32189135 2020
32
A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders. 61
31776727 2020
33
[Hematological and genotypic features of 100 patients with hemoglobin E disorders from Yunnan Province]. 61
31922592 2020
34
Comparison Between Three Molecular Diagnostics for the Identification of Heterozygous Hemoglobin E. 61
31930879 2020
35
Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India. 61
32158094 2020
36
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population. 61
31941534 2020
37
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. 61
30661467 2019
38
Pharmacokinetics and pharmacodynamics of single dose of inhaled nebulized sodium nitrite in healthy and hemoglobin E/β-thalassemia subjects. 61
31513867 2019
39
Interactions of unstable hemoglobin Rush with thalassemia and hemoglobin E result in thalassemia intermedia. 61
31124399 2019
40
Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. 61
31777502 2019
41
Determination of Normal HbA1C Levels in Non-Diabetic Patients with Hemoglobin E. 61
31882432 2019
42
Prevalence of left ventricular diastolic dysfunction by cardiac magnetic resonance imaging in thalassemia major patients with normal left ventricular systolic function. 61
31694552 2019
43
[Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes]. 61
31607315 2019
44
Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People's Democratic Republic. 61
31271507 2019
45
A case of compound heterozygous hemoglobin Köln/hemoglobin E in an Indian family. 61
31424305 2019
46
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations. 61
30806653 2019
47
Differentiation of homozygous hemoglobin E and hemoglobin E-β0 -thalassemia in children. 61
30582675 2019
48
The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation. 61
30663218 2019
49
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. 61
30697927 2019
50
A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. 61
30239825 2019
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Variations for Hemoglobin E Disease

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ClinVar genetic disease variations for Hemoglobin E Disease:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
2 HBB NM_000518.4(HBB):c.208G>A (p.Gly70Ser)SNV Conflicting interpretations of pathogenicity 15138 rs33947415 11:5247914-5247914 11:5226684-5226684
3 HBB NM_000518.4(HBB):c.364G>C (p.Glu122Gln)SNV Conflicting interpretations of pathogenicity 15152 rs33946267 11:5246908-5246908 11:5225678-5225678
4 HBB NM_000518.5(HBB):c.274C>T (p.Leu92=)SNV Conflicting interpretations of pathogenicity 439144 rs769583496 11:5247848-5247848 11:5226618-5226618
5 HBB NM_000518.5(HBB):c.294C>T (p.His98=)SNV Conflicting interpretations of pathogenicity 439783 rs34515413 11:5247828-5247828 11:5226598-5226598
6 HBB NM_000518.5(HBB):c.246C>A (p.Leu82=)SNV Conflicting interpretations of pathogenicity 439778 rs145669504 11:5247876-5247876 11:5226646-5226646
7 HBB NM_000518.5(HBB):c.20A>T (p.Glu7Val)SNV Conflicting interpretations of pathogenicity 15333 rs334 11:5248232-5248232 11:5227002-5227002
8 HBB NM_000518.5(HBB):c.92+6T>CSNV Conflicting interpretations of pathogenicity 15450 rs35724775 11:5248154-5248154 11:5226924-5226924
9 HBB NM_000518.5(HBB):c.-31C>TSNV Conflicting interpretations of pathogenicity 36291 rs63750628 11:5248282-5248282 11:5227052-5227052
10 HBB NM_000518.5(HBB):c.324C>T (p.Gly108=)SNV Conflicting interpretations of pathogenicity 36322 rs193922562 11:5246948-5246948 11:5225718-5225718
11 HBB NM_000518.5(HBB):c.402G>C (p.Val134=)SNV Conflicting interpretations of pathogenicity 36327 rs113082294 11:5246870-5246870 11:5225640-5225640
12 HBB NM_000518.5(HBB):c.*56A>TSNV Uncertain significance 305000 rs537944366 11:5246772-5246772 11:5225542-5225542
13 HBB NM_000518.5(HBB):c.*53C>ASNV Uncertain significance 305001 rs886048393 11:5246775-5246775 11:5225545-5225545
14 HBB NM_000518.5(HBB):c.*59A>GSNV Uncertain significance 878836 11:5246769-5246769 11:5225539-5225539
15 HBB NM_000518.5(HBB):c.*18C>ASNV Uncertain significance 879417 11:5246810-5246810 11:5225580-5225580
16 HBB NM_000518.5(HBB):c.85C>T (p.Leu29=)SNV Uncertain significance 879840 11:5248167-5248167 11:5226937-5226937
17 HBB NM_000518.4(HBB):c.67G>A (p.Glu23Lys)SNV Uncertain significance 15162 rs33959855 11:5248185-5248185 11:5226955-5226955
18 HBB NM_000518.4(HBB):c.34G>A (p.Val12Ile)SNV Uncertain significance 15189 rs33974228 11:5248218-5248218 11:5226988-5226988
19 HBB NM_000518.5(HBB):c.9T>C (p.His3=)SNV Benign 193106 rs713040 11:5248243-5248243 11:5227013-5227013
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Expression for Hemoglobin E Disease

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Search GEO for disease gene expression data for Hemoglobin E Disease.
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Pathways for Hemoglobin E Disease

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Pathways related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.43 SERPINA3 HBE1 HBD HBB F2
2
Folate Metabolism 1
Show member pathways
 11.66 SERPINA3 HBB F2
3
Factors involved in megakaryocyte development and platelet production 65
11 HBE1 HBD HBB
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GO Terms for Hemoglobin E Disease

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Cellular components related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.55 SERPINA3 HBE1 HBD HBB F2
2 hemoglobin complex GO:0005833 9.26 HBQ1 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.92 HBQ1 HBE1 HBD HBB

Biological processes related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 HBE1 HBD HBB F2
2 cellular oxidant detoxification GO:0098869 9.46 HBQ1 HBE1 HBD HBB
3 acute-phase response GO:0006953 9.32 SERPINA3 F2
4 hydrogen peroxide catabolic process GO:0042744 9.26 HBQ1 HBE1 HBD HBB
5 oxygen transport GO:0015671 8.92 HBQ1 HBE1 HBD HBB

Molecular functions related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.71 HBQ1 HBE1 HBD HBB
2 peroxidase activity GO:0004601 9.67 HBQ1 HBE1 HBD HBB
3 oxygen binding GO:0019825 9.56 HBQ1 HBE1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.5 HBE1 HBD HBB
5 oxygen carrier activity GO:0005344 9.46 HBQ1 HBE1 HBD HBB
6 organic acid binding GO:0043177 9.26 HBQ1 HBE1 HBD HBB
7 haptoglobin binding GO:0031720 8.92 HBQ1 HBE1 HBD HBB
Sources

Sources for Hemoglobin E Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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