Hemoglobinopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMG005 MIFTS: 52	Hemoglobinopathy Categories: Blood diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Hemoglobinopathy

MalaCards integrated aliases for Hemoglobinopathy:

Name: Hemoglobinopathy ¹² ⁷⁶ ⁵³ ²⁹ ⁶ ¹⁵

Hemoglobinopathies ¹² ⁵⁵ ³ ⁴⁴ ¹⁵ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Other hereditary haemolytic anaemias

Other haemoglobinopathies

External Ids:

Disease Ontology ¹² DOID:2860

ICD10 ³³ D58.2

MeSH ⁴⁴ D006453

NCIt ⁵⁰ C3092

SNOMED-CT ⁶⁸ 80141007

UMLS ⁷³ C0019045

Sources

Summaries for Hemoglobinopathy

CDC : ³ Hemoglobinopathies is the medical term for a group of blood disorders and diseases that affect red blood cells. These disorders include both sickle cell disease (SCD) and thalassemia.

MalaCards based summary : Hemoglobinopathy, also known as hemoglobinopathies, is related to methemoglobinemia, beta-globin type and heinz body anemias, and has symptoms including cyanosis An important gene associated with Hemoglobinopathy is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. The drugs Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : ⁷⁶ Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin... more...

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Related Diseases for Hemoglobinopathy

Diseases related to Hemoglobinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)

#	Related Disease	Score	Top Affiliating Genes
1	methemoglobinemia, beta-globin type	32.6	HBA1 HBA2 HBB
2	heinz body anemias	32.6	HBA1 HBA2 HBB
3	sickle cell disease	30.5	EPO HBA2 HBB HBD HBG1
4	hydrops fetalis	30.4	HBA1 HBA2
5	glucosephosphate dehydrogenase deficiency	30.3	HBB HP UGT1A1
6	iron metabolism disease	30.0	EPO HFE TF
7	sickle cell anemia	30.0	EPO HBA1 HBA2 HBB HBG1 UGT1A1
8	hemoglobin c disease	30.0	HBB HBD HBE1
9	hemoglobin e disease	29.7	HBB HBD HBE1
10	hemolytic anemia	29.7	EPO HBA1 HBA2 HBB HP
11	hemosiderosis	29.7	EPO HAMP HFE TF
12	thalassemia	29.6	EPO HBA1 HBA2 HBB HBD HBE1
13	iron deficiency anemia	29.6	EPO HAMP HFE TF
14	alpha-thalassemia	29.1	EPO HBA1 HBA2 HBB HBE1 HBG1
15	malaria	29.1	EPO HAMP HBA1 HBA2 HBB HP
16	deficiency anemia	29.1	EPO HAMP HBA2 HBB HFE HP
17	beta-thalassemia	28.8	EPO HBA1 HBA2 HBB HBD HBE1
18	congenital hemolytic anemia	28.0	EPO HBA2 HBB HBD HBE1 HBG1
19	hemoglobinopathy toms river	12.1
20	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	11.1
21	familial avascular necrosis of the femoral head	11.1
22	pulmonary hypertension	10.3
23	hemoglobin zurich	10.3	HBA2 HBB
24	hemoglobin lepore-beta-thalassemia syndrome	10.3	HBB HBD
25	alpha-thalassemia/mental retardation syndrome, chromosome 16-related	10.3	HBA1 HBA2
26	hemoglobin d disease	10.3	HBB HBD
27	diabetes mellitus, insulin-dependent, 24	10.3	HBA1 HBA2
28	hydrops fetalis, nonimmune	10.3	HBA1 HBA2
29	immune hydrops fetalis	10.3	HBA1 HBA2
30	hematopoietic stem cell transplantation	10.3
31	malignant secondary hypertension	10.3	HBB HBD
32	hypoglycemic coma	10.3	HBA1 HBA2
33	erythrocytosis, familial, 7	10.3	HBA1 HBA2
34	type 1 diabetes mellitus 7	10.2	HBA1 HBA2
35	osgood-schlatter's disease	10.2	HBB HBD
36	type 1 diabetes mellitus 11	10.2	HBA1 HBA2
37	immature cataract	10.2	HBA1 HBA2
38	kluver-bucy syndrome	10.2	HBB HBD
39	malignant essential hypertension	10.2	HBB HBD
40	glutathione peroxidase deficiency	10.2	HBA1 HBA2 HBB
41	hemoglobinemia	10.2	HBB HP
42	erythema elevatum diutinum	10.2	HBA1 PECAM1
43	hemochromatosis, type 3	10.2	HAMP HFE
44	blind loop syndrome	10.2	HBB HBD
45	capillary hemangioma	10.2	HBA1 PECAM1
46	spherocytosis, type 3	10.2	HBB KLF1
47	pleuropneumonia	10.1	HBB HBD
48	fetal hemoglobin quantitative trait locus 1	10.1	HBB HBD HBG1
49	blood protein disease	10.1	HBB HBD HBG1
50	sea-blue histiocyte disease	10.1	HBB HBE1

Graphical network of the top 20 diseases related to Hemoglobinopathy:

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Symptoms & Phenotypes for Hemoglobinopathy

UMLS symptoms related to Hemoglobinopathy:

cyanosis

GenomeRNAi Phenotypes related to Hemoglobinopathy according to GeneCards Suite gene sharing:

²⁶ (show all 26)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	9.91	HBG1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.91	HBE1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.91	HBG1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-181	9.91	HBA1 HBA2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-193	9.91	HBG1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-204	9.91	HBE1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-213	9.91	HBG1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-28	9.91	HBG1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	9.91	HBA1 HBA2
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-55	9.91	HBG1
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-72	9.91	HBA1 HBA2 HBE1 HBG1
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-77	9.91	HBG1
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	9.91	HBG1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.6	PECAM1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.6	HBA1 HBA2 PECAM1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.6	HBA1 HBA2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.6	PECAM1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-13	9.6	PECAM1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.6	HBA1 HBA2 PECAM1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	9.6	PECAM1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	9.6	PECAM1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.6	HBA1 HBA2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.6	PECAM1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.6	PECAM1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.6	PECAM1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	9.6	PECAM1

Sources

Drugs & Therapeutics for Hemoglobinopathy

Drugs for Hemoglobinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 456)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Peginterferon alfa-2a

Approved, Investigational

Phase 4,Phase 2

198153-51-4

5360545

Peginterferon alfa-2b

Approved

Phase 4

99210-65-8, 215647-85-1

Ribavirin

Approved

Phase 4,Phase 2

36791-04-5

37542

Hydroxyurea

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

127-07-1

3657

Iron

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

7439-89-6

23925

Deferoxamine

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

70-51-9

2973

Deferiprone

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

30652-11-0

2972

Basiliximab

Approved, Investigational

Phase 4

152923-56-3, 179045-86-4

Methotrexate

Approved

Phase 4,Phase 2,Phase 1

59-05-2, 1959-05-2

126941

Mycophenolic acid

Approved

Phase 4,Phase 1,Phase 2,Not Applicable

24280-93-1

446541

leucovorin

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

58-05-9

6006 143

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1

22916-47-8

4189

Deferasirox

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

201530-41-8

5493381

Morphine

Approved, Investigational

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

57-27-2

5288826

Zoledronic acid

Approved

Phase 4,Phase 2,Phase 3,Phase 1

118072-93-8

68740

Proguanil

Approved

Phase 4,Phase 1,Phase 2,Not Applicable

500-92-5

4923

Ketamine

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

6740-88-1

3821

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4,Phase 1,Phase 2,Not Applicable

93-14-1

3516

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4,Phase 2

437-38-7

3345

Zinc

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

7440-66-6

Zinc sulfate

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

7733-02-0

Amodiaquine

Approved, Investigational

Phase 4,Phase 1,Phase 2

86-42-0

2165

Artemether

Approved

Phase 4,Not Applicable

71963-77-4

119380 68911

Lumefantrine

Approved

Phase 4,Not Applicable

82186-77-4

6437380

Artesunate

Approved, Investigational

Phase 4,Phase 1,Phase 2

88495-63-0

5464098 6917864

Mefloquine

Approved, Investigational

Phase 4,Phase 1,Phase 2

53230-10-7

4046

Hydromorphone

Approved, Illicit

Phase 4,Phase 3,Phase 2

466-99-9

5284570

Sofosbuvir

Approved

Phase 4,Phase 2

1190307-88-0

45375808

Ledipasvir

Approved

Phase 4,Phase 2

1256388-51-8

67505836

Acetaminophen

Approved

Phase 4,Phase 1,Not Applicable

103-90-2

1983

Busulfan

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

55-98-1

2478

Cyclophosphamide

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

6055-19-2, 50-18-0

2907

Fludarabine

Approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

75607-67-9, 21679-14-1

30751

Tacrolimus

Approved, Investigational

Phase 4,Phase 1,Phase 2

104987-11-3

445643 439492

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 1,Phase 2

58-14-0

4993

Sulfadoxine

Approved, Investigational

Phase 4,Phase 3,Phase 1,Phase 2

2447-57-6

17134

Codeine

Approved, Illicit

Phase 4,Phase 1,Phase 2

76-57-3

5284371

Metformin

Approved

Phase 4,Early Phase 1

657-24-9

14219 4091

Ibuprofen

Approved

Phase 4,Phase 2,Not Applicable

15687-27-1

3672

Desogestrel

Approved

Phase 4

54024-22-5

40973

Etonogestrel

Approved, Investigational

Phase 4

54048-10-1

6917715 40976

Ketorolac

Approved

Phase 4

66635-83-4, 74103-06-3

3826

Ergocalciferol

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1

50-14-6

5280793

Vitamin D3

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1

67-97-0

5280795 6221

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

1406-16-2

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

59-30-3

6037

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

77-92-9

311

Piperaquine

Experimental, Investigational

Phase 4

4085-31-8

5079497

Dihydroartemisinin

Experimental, Investigational

Phase 4

71939-50-9

6918483

Heroin

Illicit, Investigational

Phase 4

561-27-3

5462328

Interventional clinical trials:

(show top 50) (show all 854)

#	Name	Status	NCT ID	Phase	Drugs
1	Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies	Unknown status	NCT00887081	Phase 4	PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
2	Mobile-Directly Observed Therapy on Adherence to Hydroxyurea	Unknown status	NCT02844673	Phase 4	Hydroxyurea
3	B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals	Unknown status	NCT01846923	Phase 4
4	The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study	Unknown status	NCT01323608	Phase 4	Vitamin D3;Placebo
5	Combined Chelation Treatment With Deferiprone and Deferoxamine in Thalassemia Major	Unknown status	NCT00103753	Phase 4	deferiprone
6	Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major	Unknown status	NCT02342145	Phase 4	Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
7	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload	Completed	NCT00673608	Phase 4	deferasirox
8	Intranasal Fentanyl Versus Intravenous Morphine in the Treatment of Severe Painful Sickle Cell Crises in Children	Completed	NCT03682211	Phase 4	Fentanyl Citrate;Morphine sulphate
9	Zinc Supplementation on Cellular Immunity in Thalassemia Major	Completed	NCT03117192	Phase 4	Zinc Sulfate;Sucrose Syrup
10	Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions	Completed	NCT02731157	Phase 4	Rejuvesol
11	Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated	Completed	NCT01609192	Phase 4	Hydrea® (hydroxyurea )
12	Tracking Resistance to Artemisinin (TRAC)	Completed	NCT01350856	Phase 4	Artesunate 2;Artesunate 4
13	Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis	Completed	NCT01482091	Phase 4	Fentanyl Citrate;Normal Saline
14	Efficacy Study of the Use of Sequential DFP-DFO Versus DFP	Completed	NCT00733811	Phase 4	Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
15	Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events	Completed	NCT00346242	Phase 4	Zoledronic Acid
16	Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia	Completed	NCT03095326	Phase 4	Sucrose
17	Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH)	Completed	NCT02522104	Phase 4	Siklos
18	Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease	Completed	NCT02222246	Phase 4	Hydromorphone (Standardized, weight-based dosing);Morphine Sulfate (Standardized, weight-based dosing);Hydromorphone (Patient Specific dosing);Morphine Sulfate (Patient Specific dosing)
19	Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial	Completed	NCT03032666	Phase 4	sofosbuvir/velpatasvir
20	An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study)	Completed	NCT01736540	Phase 4
21	Post Hematopoietic Stem Cell Transplantation	Completed	NCT01610297	Phase 4	ICL670
22	Combo Chelation Trial	Completed	NCT00901199	Phase 4	Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
23	Pilot Study for Patients With Poor Response to Deferasirox	Completed	NCT00749515	Phase 4	Deferoxamine;Deferasirox
24	This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.	Completed	NCT01250951	Phase 4	Deferasirox
25	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major	Completed	NCT00800761	Phase 4	Deferoxamine and Deferiprone;Deferoxamine
26	Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection	Completed	NCT00707850	Phase 4	PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
27	Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)	Completed	NCT00171301	Phase 4	Deferasirox
28	Efficacy Study in Removing Excess Iron From the Heart	Completed	NCT00105495	Phase 4	Ferriprox (deferiprone);Desferal (deferoxamine)
29	Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload	Completed	NCT00564941	Phase 4	deferasirox
30	Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency)	Recruiting	NCT03374111	Phase 4	Colla corii asini;a Simulate Agent of Colla corii asini granule
31	Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises?	Recruiting	NCT03541980	Phase 4	Acetaminophen;Normal saline
32	Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia	Recruiting	NCT03392298	Phase 4	Colla corii asini
33	Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major	Recruiting	NCT03171831	Phase 4	Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
34	The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major	Recruiting	NCT02984475	Phase 4	Metformin
35	Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children	Recruiting	NCT03591575	Phase 4	Deferiprone oral solution;Placebo
36	Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias	Recruiting	NCT02041299	Phase 4	Deferiprone;Deferoxamine
37	L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension	Recruiting	NCT03402191	Phase 4	L-arginine;Sildenafil
38	Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE)	Recruiting	NCT03178643	Phase 4	Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
39	Contraception in Women With Sickle Cell Disease	Active, not recruiting	NCT02594462	Phase 4	etonogestrel-releasing implant contraceptive
40	Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment	Active, not recruiting	NCT02149537	Phase 4	hydroxyurea
41	Efficacy and Safety Study of Deferasirox in Patients With Non-transfusion Dependent Thalassemia	Active, not recruiting	NCT01709838	Phase 4	ICL670 deferasirox
42	Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias	Enrolling by invitation	NCT02443545	Phase 4	Deferiprone
43	A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT	Enrolling by invitation	NCT03176849	Phase 4
44	Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease	Terminated	NCT00115336	Phase 4	Intravenous Ketorolac;Ibuprofen
45	Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine	Terminated	NCT00880373	Phase 4	Ibuprofen;Placebo;Diamorphine or Morphine
46	Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants.	Terminated	NCT00368186	Phase 4
47	Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease	Terminated	NCT00252122	Phase 4	Ketamine
48	Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil	Withdrawn	NCT00937144	Phase 4	Viagra (Sildenafil);placebo
49	Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia	Withdrawn	NCT02069886	Phase 4	deferasirox
50	An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old	Withdrawn	NCT01724138	Phase 4	Deferasirox

Search NIH Clinical Center for Hemoglobinopathy

Cochrane evidence based reviews: hemoglobinopathies

Sources

Genetic Tests for Hemoglobinopathy

Genetic tests related to Hemoglobinopathy:

#	Genetic test	Affiliating Genes
1	Hemoglobinopathy ²⁹

Sources

Anatomical Context for Hemoglobinopathy

MalaCards organs/tissues related to Hemoglobinopathy:

⁴¹

Bone, Bone Marrow, Testes, Liver, T Cells, Lung, Heart

Sources

Publications for Hemoglobinopathy

Articles related to Hemoglobinopathy:

(show top 50) (show all 1100)

#	Title	Authors	Year
1	Coinheritance of Sicilian (I'I^)<sup>0</sup>-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy. ( 29651217 )	Eftekhari H....Akhavan-Niaki H.	2018
2	The Effect of ABO Blood Groups, Hemoglobinopathy, and Heme Oxygenase-1 Polymorphisms on Malaria Susceptibility and Severity. ( 29742871 )	Kuesap J....Na-Bangchang K.	2018
3	Mutation Screening of the KrA1ppel-like Factor 1 Gene in Individuals With Increased Fetal Hemoglobin Referred for Hemoglobinopathy Investigation in South of Iran. ( 29420372 )	Hamid M....Sedaghat A.	2018
4	Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011-2015. ( 29801592 )	Alsaeed E.S....Bashawri H.	2018
5	An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )	Para S....Cheepsunthorn C.L.	2018
6	Late Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Hemoglobinopathy: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 29653206 )		2018
7	Correction: Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29971421 )		2018
8	Transfusion-Transmitted Plasmodium falciparum in a Patient With Sickle Cell Hemoglobinopathy. ( 29801034 )		2018
9	Fat Embolism Syndrome due to Bone Marrow Necrosis in Patients with Hemoglobinopathies: A Life-threatening Complication Mimicking Thrombotic Thrombocytopenic Purpura. ( 30479040 )	Gangaraju R...Marques MB	2018
10	Pregnancy Complications in a-Thalassemia (Hemoglobinopathy H): A Case Study. ( 29992068 )	Politou M...Vlahos NF	2018
11	Outcome of Pregnancy with Hemoglobinopathy in a Tertiary Care Center. ( 30224845 )	Chauhan A...Prasad M	2018
12	An unusual hemoglobinopathy: compound heterozygosity for hemoglobins C and E. ( 30295337 )	Chapman MS...Bain BJ	2018
13	Unexpected discovery of hemoglobinopathy C/β° thalassemia. ( 30455903 )	Bouyarmane W...El Machtani Idrissi S	2018
14	How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders. ( 30206115 )	Machogu EM...Machado RF	2018
15	Thalassemia and other hemoglobinopathies among anemic individuals in Metro Manila, Philippines and their intake of iron supplements. ( 29737797 )	Capanzana MV...Amarra MS	2018
16	A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. ( 29440190 )	Msaouel P...Walker CL	2018
17	The presence of F cells with a fetal phenotype in adults with hemoglobinopathies limits the utility of flow cytometry for quantitation of fetomaternal hemorrhage. ( 29072803 )	Othman J...Khoo TL	2018
18	Approaches for Analysis of Erythroid Cell Parameters and Hemoglobinopathies in Mouse Models. ( 29076086 )	Trudel M...Sedzro JC	2018
19	Ex Vivo Selection of Transduced Hematopoietic Stem Cells for Gene Therapy of β-Hemoglobinopathies. ( 29221807 )	Bhukhai K...Payen E	2018
20	Design and implementation of a novel advanced training curriculum in hemoglobinopathies. ( 29226350 )	Ward R	2018
21	A Nonhuman Primate Transplantation Model to Evaluate Hematopoietic Stem Cell Gene Editing Strategies for β-Hemoglobinopathies. ( 29276718 )	Humbert O...Kiem HP	2018
22	Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies. ( 29292496 )	Giambona A...Maggio A	2018
23	Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies. ( 29325430 )	Loucari CC...Kleanthous M	2018
24	Gene therapy and gene editing strategies for hemoglobinopathies. ( 29336892 )	Lidonnici MR...Ferrari G	2018
25	Artemisinin Therapy for Malaria in Hemoglobinopathies: A Systematic Review. ( 29370347 )	Sugiarto SR...Davis TME	2018
26	Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases. ( 29403210 )	Warghade S...Shah N	2018
27	Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India. ( 29417859 )	Upadhye D...Mukherjee MB	2018
28	Recent advance on genome editing for therapy of β-hemoglobinopathies. ( 29428902 )	Liu JW...Zhang P	2018
29	Haploidentical HSCT for hemoglobinopathies: improved outcomes with TCRαβ+/CD19+-depleted grafts. ( 29431621 )	Gaziev J...Andreani M	2018
30	Red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline. ( 29697146 )	Compernolle V...International Collaboration for Transfusion Medicine Guidelines	2018
31	Prenatal and preimplantation diagnosis of hemoglobinopathies. ( 29741247 )	Vrettou C...Traeger-Synodinos J	2018
32	Population Screening for Hemoglobinopathies. ( 29751732 )	Goonasekera HW...Dissanayake VHW	2018
33	Integrating HDAd5/35++ Vectors as a New Platform for HSC Gene Therapy of Hemoglobinopathies. ( 29766024 )	Li C...Lieber A	2018
34	Vertebral Bone Density Measurements by DXA are Influenced by Hepatic Iron Overload in Patients with Hemoglobinopathies. ( 30122533 )	Allard HM...Fung EB	2018
35	Newborn Screening for Hemoglobinopathies in Rhode Island, 2017. ( 30189698 )	Sprinz P...Farrow C	2018
36	Hemoglobinopathies. ( 30193516 )	Indr?k K...Divok? V	2018
37	National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality. ( 30196444 )	Voskaridou E...Greek Haemoglobinopathies Study Group	2018
38	Gene Therapy for Hemoglobinopathies. ( 30200783 )	Cavazzana M...Mavilio F	2018
39	Robust erythroid differentiation system for rhesus hematopoietic progenitor cells allowing preclinical screening of genetic treatment strategies for the hemoglobinopathies. ( 30249524 )	Demirci S...Tisdale JF	2018
40	Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies. ( 30287096 )	Wienert B...Crossley M	2018
41	Hemoglobinopathies in the Fetal Position. ( 30354961 )	Pasricha SR...Drakesmith H	2018
42	Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China. ( 30407298 )	Zhao P...Weng R	2018
43	The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center. ( 30489691 )	Nadkarni AH...Colah RB	2018
44	Knowledge and attitude toward hemoglobinopathies premarital screening program among unmarried population in western Saudi Arabia. ( 30520505 )	Binshihon SM...Qari MH	2018
45	Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A&gt;T; Lys&gt;Ile). A cause of rare anemia misdiagnosis. ( 28066926 )	MaA+A_ Pereira M.D....Vives Corrons J.L.	2017
46	Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis. ( 28383138 )	Degandt S....Emmerechts J.	2017
47	Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in I^-type hemoglobinopathy patients. ( 29061162 )	Chondrou V....Patrinos G.P.	2017
48	European migration crises: The role of national hemoglobinopathy registries in improving patient access to care. ( 28371007 )	Inusa B.P.D....Colombatti R.	2017
49	Hemoglobin Titusville: a rare low oxygen affinity hemoglobinopathy. ( 28588857 )		2017
50	Bilateral simultaneous macular infarction with spontaneous visual recovery in genotype ss hemoglobinopathy patient. ( 29379002 )		2017

Sources

Genes for Hemoglobinopathy

Genes related to Hemoglobinopathy (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HBB	Hemoglobin Subunit Beta	Protein Coding	456.57	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	8443396 11475037 20113284 (more) 1366418 2276738 18275000 15486951 17365010 8811313 9691002 12523964 17722269 8537229 17465943
2	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	43.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	11042028 14757425 1586745 (more) 8811313 20008178 17722269
3	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	31.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
4	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	28.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17699975 19958193 7579419 (more) 16814578 9883803 11454524
5	HBD	Hemoglobin Subunit Delta	Protein Coding	25.16	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	KLF1	Kruppel Like Factor 1	Protein Coding	23.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10688844
7	HP	Haptoglobin	Protein Coding	21.86	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11111244 16760505 18297891
8	HFE	Homeostatic Iron Regulator	Protein Coding	21.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17160266
9	KLF10	Kruppel Like Factor 10	Protein Coding	21.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	EPO	Erythropoietin	Protein Coding	21.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	9159314 17119327 8205176 (more) 19295544 8186851
11	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	20.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	20.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	TF	Transferrin	Protein Coding	20.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	7503084
14	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	20.05	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11454542
15	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	18.95	DISEASES inferred ¹⁵

Sources

Variations for Hemoglobinopathy

ClinVar genetic disease variations for Hemoglobinopathy:

⁶ (show all 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HBB	NM_000518.4(HBB): c.127_129delTTT (p.Phe43del)	deletion	Pathogenic	rs41417446	GRCh37	Chromosome 11, 5247993: 5247995
2	HBB	NM_000518.4(HBB): c.127_129delTTT (p.Phe43del)	deletion	Pathogenic	rs41417446	GRCh38	Chromosome 11, 5226763: 5226765
3	HBB	NM_000518.4(HBB): c.257T> C (p.Phe86Ser)	single nucleotide variant	Pathogenic	rs35693898	GRCh37	Chromosome 11, 5247865: 5247865
4	HBB	NM_000518.4(HBB): c.257T> C (p.Phe86Ser)	single nucleotide variant	Pathogenic	rs35693898	GRCh38	Chromosome 11, 5226635: 5226635
5	HBB	NM_000518.4(HBB): c.70_72delGTT (p.Val24del)	deletion	Pathogenic	rs34160180	GRCh37	Chromosome 11, 5248180: 5248182
6	HBB	NM_000518.4(HBB): c.70_72delGTT (p.Val24del)	deletion	Pathogenic	rs34160180	GRCh38	Chromosome 11, 5226950: 5226952
7	HBB	NM_000518.4(HBB): c.199A> G (p.Lys67Glu)	single nucleotide variant	Pathogenic	rs34165323	GRCh37	Chromosome 11, 5247923: 5247923
8	HBB	NM_000518.4(HBB): c.199A> G (p.Lys67Glu)	single nucleotide variant	Pathogenic	rs34165323	GRCh38	Chromosome 11, 5226693: 5226693
9	HBB	NM_000518.4(HBB): c.295G> A (p.Val99Met)	single nucleotide variant	Pathogenic	rs33933298	GRCh37	Chromosome 11, 5247827: 5247827
10	HBB	NM_000518.4(HBB): c.295G> A (p.Val99Met)	single nucleotide variant	Pathogenic	rs33933298	GRCh38	Chromosome 11, 5226597: 5226597
11	HBB	NM_000518.4(HBB): c.404T> A (p.Val135Glu)	single nucleotide variant	Pathogenic	rs33966761	GRCh37	Chromosome 11, 5246868: 5246868
12	HBB	NM_000518.4(HBB): c.404T> A (p.Val135Glu)	single nucleotide variant	Pathogenic	rs33966761	GRCh38	Chromosome 11, 5225638: 5225638
13	HBB	NM_000518.4(HBB): c.176C> G (p.Pro59Arg)	single nucleotide variant	Pathogenic	rs33991472	GRCh37	Chromosome 11, 5247946: 5247946
14	HBB	NM_000518.4(HBB): c.176C> G (p.Pro59Arg)	single nucleotide variant	Pathogenic	rs33991472	GRCh38	Chromosome 11, 5226716: 5226716
15	HBB	NM_000518.4(HBB): c.51delC (p.Lys18Argfs)	deletion	Pathogenic	rs35662066	GRCh37	Chromosome 11, 5248201: 5248201
16	HBB	NM_000518.4(HBB): c.51delC (p.Lys18Argfs)	deletion	Pathogenic	rs35662066	GRCh38	Chromosome 11, 5226971: 5226971
17	HBB	NM_000518.4(HBB): c.380T> G (p.Val127Gly)	single nucleotide variant	Pathogenic	rs33925391	GRCh37	Chromosome 11, 5246892: 5246892
18	HBB	NM_000518.4(HBB): c.380T> G (p.Val127Gly)	single nucleotide variant	Pathogenic	rs33925391	GRCh38	Chromosome 11, 5225662: 5225662
19	HBB	NM_000518.4(HBB): c.277C> A (p.His93Asn)	single nucleotide variant	Pathogenic	rs33924775	GRCh37	Chromosome 11, 5247845: 5247845
20	HBB	NM_000518.4(HBB): c.277C> A (p.His93Asn)	single nucleotide variant	Pathogenic	rs33924775	GRCh38	Chromosome 11, 5226615: 5226615
21	HBB	NM_000518.4(HBB): c.347C> A (p.Ala116Asp)	single nucleotide variant	Pathogenic	rs35485099	GRCh37	Chromosome 11, 5246925: 5246925
22	HBB	NM_000518.4(HBB): c.347C> A (p.Ala116Asp)	single nucleotide variant	Pathogenic	rs35485099	GRCh38	Chromosome 11, 5225695: 5225695

Sources

Expression for Hemoglobinopathy

Search GEO for disease gene expression data for Hemoglobinopathy.

Sources

Pathways for Hemoglobinopathy

Pathways related to Hemoglobinopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.99	HBB HBD HBE1 HBG1 PECAM1 TF
2	Factors involved in megakaryocyte development and platelet production ⁶⁶	11.82	HBB HBD HBE1 HBG1
3	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.27	HBA1 HBA2 HBB HP
4	African trypanosomiasis ³⁷	10.98	HBA1 HBA2 HBB
5	Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Show member pathways Erythrocytes take up oxygen and release carbon dioxide ⁶⁶ O2/CO2 exchange in erythrocytes ⁶⁶	10.88	HBA1 HBA2 HBB
6	Malaria ³⁷	10.61	HBA1 HBA2 HBB PECAM1
7	Iron metabolism in placenta ¹	10.48	HAMP TF
8	Hfe effect on hepcidin production ¹	10.21	HAMP HFE

Sources

GO Terms for Hemoglobinopathy

Cellular components related to Hemoglobinopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.97	EPO HAMP HBA1 HBA2 HBB HFE
2	blood microparticle	GO:0072562	9.7	HBA1 HBA2 HBB HBD HBE1 HP
3	endocytic vesicle lumen	GO:0071682	9.56	HBA1 HBA2 HBB HP
4	hemoglobin complex	GO:0005833	9.43	HBA1 HBA2 HBB HBD HBE1 HBG1
5	basal part of cell	GO:0045178	9.4	HFE TF
6	HFE-transferrin receptor complex	GO:1990712	9.37	HFE TF
7	haptoglobin-hemoglobin complex	GO:0031838	9.17	HBA1 HBA2 HBB HBD HBE1 HBG1

Biological processes related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor-mediated endocytosis	GO:0006898	9.81	HBA1 HBA2 HBB HP
2	blood coagulation	GO:0007596	9.8	HBB HBD HBE1 HBG1
3	protein heterooligomerization	GO:0051291	9.73	HBA1 HBA2 HBB HBD HBE1 HBG1
4	acute-phase response	GO:0006953	9.72	EPO HAMP HFE HP UGT1A1
5	response to hydrogen peroxide	GO:0042542	9.71	HBA1 HBA2 HBB HP
6	cellular iron ion homeostasis	GO:0006879	9.7	HAMP HFE TF
7	cellular oxidant detoxification	GO:0098869	9.7	HBA1 HBA2 HBB HBD HBE1 HBG1
8	positive regulation of cell death	GO:0010942	9.67	HBA1 HBA2 HBB HP
9	bicarbonate transport	GO:0015701	9.65	HBA1 HBA2 HBB
10	positive regulation of receptor-mediated endocytosis	GO:0048260	9.58	HFE TF
11	response to vitamin A	GO:0033189	9.58	EPO HAMP
12	response to iron ion	GO:0010039	9.57	HAMP HFE
13	cellular response to peptide	GO:1901653	9.56	KLF1 KLF10
14	multicellular organismal iron ion homeostasis	GO:0060586	9.55	HAMP HFE
15	cellular response to iron ion	GO:0071281	9.54	HFE TF
16	regulation of iron ion import	GO:1900390	9.46	HFE TF
17	response to iron ion starvation	GO:1990641	9.43	HAMP HFE
18	hydrogen peroxide catabolic process	GO:0042744	9.43	HBA1 HBA2 HBB HBD HBE1 HBG1
19	oxygen transport	GO:0015671	9.1	HBA1 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Hemoglobinopathy according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.85	HBA1 HBA2 HBB HBD HBE1 HBG1
2	oxygen binding	GO:0019825	9.8	HBA1 HBA2 HBB HBD HBE1 HBG1
3	peroxidase activity	GO:0004601	9.73	HBA1 HBA2 HBB HBD HBE1 HBG1
4	oxygen carrier activity	GO:0005344	9.63	HBA1 HBA2 HBB HBD HBE1 HBG1
5	hemoglobin alpha binding	GO:0031721	9.58	HBB HBD HBE1
6	transferrin receptor binding	GO:1990459	9.46	HFE TF
7	hemoglobin binding	GO:0030492	9.43	HBB HP
8	haptoglobin binding	GO:0031720	9.43	HBA1 HBA2 HBB HBD HBE1 HBG1
9	organic acid binding	GO:0043177	9.1	HBA1 HBA2 HBB HBD HBE1 HBG1
10	protein binding	GO:0005515	10.31	EPO HBA1 HBA2 HBB HBD HBE1
11	metal ion binding	GO:0046872	10.13	HBA1 HBA2 HBB HBD HBE1 HBG1

Sources

Sources for Hemoglobinopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia