SKCA
MCID: SCK003
MIFTS: 74

Sickle Cell Anemia (SKCA)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sickle Cell Anemia

MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 57 12 74 74 20 58 73 36 13 6 15 37 62
Hemoglobin Sc Disease 12 74 20 44 17 71
Anemia, Sickle Cell 44 39 71
Sickle Cell-Hemoglobin C Disease Syndrome 20 58
Sickle Cell Disease 58 73
Hbsc Disease 20 58
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 20
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 20
Sickle Cell-Hemoglobin C Disease 29
Hb-Ss Disease Without Crisis 12
Haemoglobin Sc Disease 12
Hemoglobin S Disease 20
Sickle Cell Anaemia 12
Hb-S/hb-C Disease 12
Sickle Cell Trait 71
Drepanocytosis 12
Hb Sc Disease 12
Hbs Disease 20
Skca 73

Characteristics:

Orphanet epidemiological data:

58
sickle cell anemia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (France),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: adult,early childhood,infantile;
sickle cell-hemoglobin c disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
persistence of fetal hemoglobin can ameliorate many disease aspects
presence of comorbid alpha-thalassemia may have beneficial effects


HPO:

31
sickle cell anemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


Summaries for Sickle Cell Anemia

GARD : 20 Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of hemoglobin SC disease include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person. Hemoglobin SC disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. These mutations cause changes in the shape of the red blood cells. People affected by hemoglobin SC disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by hemoglobin SC disease may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.

MalaCards based summary : Sickle Cell Anemia, also known as hemoglobin sc disease, is related to acute chest syndrome and deficiency anemia, and has symptoms including angina pectoris, abdominal pain and chest pain. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Folate Metabolism. The drugs Proguanil and Sulfadoxine have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are chronic hemolytic anemia and recurrent infections

Disease Ontology : 12 A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

OMIM® : 57 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010). See review of infection in sickle cell disease by Booth et al. (2010). Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease. (603903) (Updated 05-Mar-2021)

KEGG : 36 Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.

UniProtKB/Swiss-Prot : 73 Sickle cell anemia: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues.

PubMed Health : 62 About sickle cell anemia: Sickle cell anemia (uh-NEE-me-uh) is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a crescent. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin (HEE-muh-glow-bin). This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Wikipedia : 74 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The... more...

Related Diseases for Sickle Cell Anemia

Diseases related to Sickle Cell Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1019)
# Related Disease Score Top Affiliating Genes
1 acute chest syndrome 32.9 VCAM1 HMOX1 HBB G6PD
2 deficiency anemia 32.6 TNF LOC106099062 HMOX1 HBS1L HBG2 HBG1
3 splenic sequestration 31.8 HBB F2 EPO
4 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 31.6 LOC110006319 LOC106099062 HBG2 HBG1 HBB BCL11A
5 iron metabolism disease 31.6 HBB G6PD EPO
6 glucosephosphate dehydrogenase deficiency 31.3 UGT1A1 HBG2 HBB G6PD
7 vascular disease 31.3 VCAM1 TNF HMOX1 F2 EPO
8 thalassemia 31.3 LOC110006319 LOC106099062 HBS1L HBG1 HBB HBA1
9 sickle cell disease 31.2 VCAM1 UGT1A1 LOC110006319 LOC106099062 HMOX1 HBS1L
10 bilirubin metabolic disorder 31.2 UGT1A1 HMOX1 HBG2 G6PD F2
11 iron deficiency anemia 31.2 TNF HBG2 HBA1 G6PD EPO
12 hemoglobinuria 31.2 G6PD F2 EPO
13 hemolytic anemia 31.1 UGT1A1 TNF LOC106099062 HMOX1 HBG2 HBG1
14 gilbert syndrome 31.1 UGT1A1 HMOX1 G6PD
15 plasmodium falciparum malaria 31.1 TNF HBB G6PD
16 sleep apnea 31.1 VCAM1 TNF EPO
17 chronic kidney disease 31.1 VCAM1 TNF HMOX1 EPO CCR5 APOL1
18 hemoglobin c disease 31.1 LOC106099062 HBB
19 sickle cell disease and related diseases 31.0 LOC106099062 HBB
20 hemochromatosis, type 1 31.0 HMOX1 HBS1L HBB EPO
21 pulmonary edema 31.0 TNF HMOX1 F2 EPO
22 acute erythroid leukemia 31.0 HBG1 HBB EPO
23 respiratory failure 30.9 TNF HBG2 G6PD F2 EPO
24 congenital hemolytic anemia 30.9 HBG2 HBG1 HBB G6PD EPO BCL11A
25 thalassemia minor 30.9 UGT1A1 HBB EPO
26 cholangitis 30.9 TNF F2 CCR5
27 splenic infarction 30.9 HBB F2
28 hereditary spherocytosis 30.8 UGT1A1 HBG2 HBG1 HBB G6PD BCL11A
29 microcytic anemia 30.8 HBB HBA1 G6PD EPO
30 antiphospholipid syndrome 30.8 VCAM1 TNF F2
31 endocarditis 30.8 VCAM1 TNF F2
32 acquired immunodeficiency syndrome 30.8 VCAM1 TNF EPO CCR5
33 sclerosing cholangitis 30.8 TNF F2 CCR5
34 hemoglobinopathy 30.7 VCAM1 UGT1A1 LOC110006319 LOC106099062 HBS1L HBG2
35 heart disease 30.7 VCAM1 TNF HMOX1 G6PD F2 EPO
36 hemoglobin h disease 30.7 HBG2 HBG1 HBB HBA1 G6PD EPO
37 pyridoxine deficiency anemia 30.6 VCAM1 F2
38 neonatal jaundice 30.6 UGT1A1 TNF HMOX1 G6PD
39 myocardial infarction 30.6 VCAM1 TNF HMOX1 F2 EPO CCR5
40 beta-thalassemia 30.5 UGT1A1 LOC110006319 LOC106099062 HBS1L HBG2 HBG1
41 viral hepatitis 30.5 TNF G6PD F2
42 kidney papillary necrosis 30.5 HBB APOL1
43 beta-thalassemia major 30.5 LOC110006319 LOC106099062 HBB
44 plasmodium vivax malaria 30.5 VCAM1 TNF G6PD
45 abdominal tuberculosis 30.5 TNF F2
46 alpha-thalassemia 30.5 VCAM1 UGT1A1 TNF MIPEP LOC110006319 LOC106099062
47 hepatic encephalopathy 30.5 TNF HMOX1 F2
48 hypertensive encephalopathy 30.4 F2 EPO
49 hemoglobin e disease 30.4 LOC106099062 HBS1L HBB F2 BCL11A
50 toxoplasmosis 30.4 TNF F2 CCR5

Comorbidity relations with Sickle Cell Anemia via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Hypertension, Essential Iron Deficiency Anemia

Graphical network of the top 20 diseases related to Sickle Cell Anemia:



Diseases related to Sickle Cell Anemia

Symptoms & Phenotypes for Sickle Cell Anemia

Human phenotypes related to Sickle Cell Anemia:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic hemolytic anemia 58 31 obligate (100%) Obligate (100%) HP:0004870
2 recurrent infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002719
3 avascular necrosis 58 31 frequent (33%) Frequent (79-30%) HP:0010885
4 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
5 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
6 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
7 abnormality of the spleen 58 31 frequent (33%) Frequent (79-30%) HP:0001743
8 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
9 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
10 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
11 iron deficiency anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001891
12 pigment gallstones 58 31 frequent (33%) Frequent (79-30%) HP:0011981
13 abnormality of the nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000707
14 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
15 hypoxemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012418
16 persistence of hemoglobin f 58 31 occasional (7.5%) Occasional (29-5%) HP:0011904
17 unconjugated hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008282
18 elevated serum creatinine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003259
19 increased lactate dehydrogenase level 31 occasional (7.5%) HP:0025435
20 microcytic anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001935
21 increased mean corpuscular volume 58 31 very rare (1%) Very rare (<4-1%) HP:0005518
22 hemolytic anemia 58 31 Very frequent (99-80%) HP:0001878
23 hypertension 31 HP:0000822
24 splenomegaly 31 HP:0001744
25 hepatomegaly 31 HP:0002240
26 renal insufficiency 31 HP:0000083
27 retinopathy 31 HP:0000488
28 cardiomegaly 31 HP:0001640
29 cholelithiasis 31 HP:0001081
30 jaundice 31 HP:0000952
31 hematuria 31 HP:0000790
32 abdominal pain 31 HP:0002027
33 stroke 31 HP:0001297
34 abnormality of the vasculature 58 Occasional (29-5%)
35 hypochromic anemia 58 Very rare (<4-1%)
36 recurrent bacterial infections 31 HP:0002718
37 pain 58 Very frequent (99-80%)
38 increased lactate dehydrogenase activity 58 Occasional (29-5%)
39 priapism 31 HP:0200023
40 increased red cell sickling tendency 31 HP:0008346

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen:
abdominal pain

Hematology:
hypoxemia
leukocytosis
hemolysis
sickle cell anemia
anemia, chronic

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Abdomen Spleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

Neurologic Central Nervous System:
stroke
pain, secondary to vasoocclusion

Genitourinary External Genitalia Male:
priapism

Genitourinary Kidneys:
renal failure

Respiratory Lung:
acute chest syndrome

Immunology:
increased susceptibility to bacterial infections
resistance to falciparum malaria infection

Clinical features from OMIM®:

603903 (Updated 05-Mar-2021)

UMLS symptoms related to Sickle Cell Anemia:


angina pectoris, abdominal pain, chest pain, edema

Drugs & Therapeutics for Sickle Cell Anemia

PubMed Health treatment related to Sickle Cell Anemia: 62

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, organ damage, and strokes ; and control complications (if they occur). Blood and marrow stem cell transplants may offer a cure for a small number of people who have sickle cell anemia . Researchers continue to look for new treatments for the disease. Infants who have been diagnosed with sickle cell anemia through newborn screening are treated with antibiotics to prevent infections and receive needed vaccinations. Their parents are educated about the disease and how to manage it. These initial treatment steps have greatly improved the outcome for children who have sickle cell anemia.

Drugs for Sickle Cell Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 367)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Proguanil Approved Phase 4 500-92-5 4923
2
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
3
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
4
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
5
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
6
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
7
Desogestrel Approved Phase 4 54024-22-5 40973
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10
Tocopherol Approved, Investigational Phase 4 1406-66-2
11
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
12
Deferiprone Approved Phase 4 30652-11-0 2972
13
Lactitol Approved, Investigational Phase 4 585-86-4 157355
14
Ibuprofen Approved Phase 4 15687-27-1 3672
15
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
16
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
17
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
19
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
21
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
22
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
23 Tocotrienol Investigational Phase 4 6829-55-6
24 Nutrients Phase 4
25 Micronutrients Phase 4
26 Trace Elements Phase 4
27 Vitamins Phase 4
28 Antiparasitic Agents Phase 4
29 Antiprotozoal Agents Phase 4
30 Antimalarials Phase 4
31 Hormones Phase 4
32 Vitamin D2 Phase 4
33 Ergocalciferols Phase 4
34 Calcium, Dietary Phase 4
35 Calciferol Phase 4
36 Liver Extracts Phase 4
37 Artemisinine Phase 4
38 Artemisinins Phase 4
39 Contraceptive Agents Phase 4
40 Progestins Phase 4
41
Ethylene Phase 4 74-85-1 6325
42 Hydroxycholecalciferols Phase 4
43 glutamine Phase 4
44 Anesthetics Phase 4
45 Hemostatics Phase 4
46 Anesthetics, Dissociative Phase 4
47 Anesthetics, Intravenous Phase 4
48 Anesthetics, General Phase 4
49 Arginine Vasopressin Phase 4
50 Vasopressins Phase 4

Interventional clinical trials:

(show top 50) (show all 788)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Unknown status NCT02041299 Phase 4 Deferiprone;Deferoxamine
2 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
3 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
4 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Completed NCT03541980 Phase 4 Acetaminophen;Normal saline
5 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Completed NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
6 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Completed NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
7 Evaluation of the Impact of Renal Function on the Pharmacokinetics of Hydroxyurea (SIKLOS ®) in Normal-renal Function, Hyperfiltrating and Renal Failure Sickle Cell Disease Patients (DARH) Completed NCT02522104 Phase 4 Siklos
8 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)
9 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
10 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis: A Randomized, Double Blind Placebo Controlled Trial Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
11 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
12 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
13 Intranasal Fentanyl Versus Intravenous Morphine in the Emergency Department Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
14 The Effect of Voxelotor on Exercise Capacity of Youths With Sickle Cell Anemia Recruiting NCT04581356 Phase 4 Voxelotor
15 A Phase 4, Open-Label, Single-Center Study to Assess Pharmacokinetic Characteristics and Safety of Endari in Patients With Sickle Cell Disease Recruiting NCT04684381 Phase 4 L-glutamine
16 Desmopressin as a Therapy for Nocturnal Enuresis in Pediatric Patients With Sickle Cell Disease Recruiting NCT04420585 Phase 4 Desmopressin
17 Low Dose Ketamine for Acute Pain Crisis in Patients With Sickle Cell Disease Recruiting NCT04330183 Phase 4 Ketamine;Normal Saline
18 Risk Stratification for Clinical Severity of Sickle Cell Disease in Nigeria and Assessment of Efficacy and Safety During Treatment With Hydroxyurea Active, not recruiting NCT02149537 Phase 4 hydroxyurea
19 Endothelial Monocyte-activating Polypeptide-II as an Endothelial Dysfunction Marker and Its Relation to the Oxidative Stress in Egyptian Sickle Patients Active, not recruiting NCT03903133 Phase 4 Vitamin E
20 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
21 An Indian Multi-centric Phase IV Study to Assess the Safety of Crizanlizumab With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Vaso-occlusive Crises. Not yet recruiting NCT04662931 Phase 4 crizanlizumab
22 An Open-label, Multi-center, Phase IV, Rollover Study for Patients With Sickle Cell Disease Who Have Completed a Prior Novartis-Sponsored Crizanlizumab Study Not yet recruiting NCT04657822 Phase 4 Crizanlizumab
23 A Phase 4, Multicenter, Open-label Study to Evaluate the Treatment Effect of Voxelotor on Physical Activity in Adolescents and Adults With Sickle Cell Disease Not yet recruiting NCT04400487 Phase 4 Voxelotor
24 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
25 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
26 An Evaluation of the Effectiveness of Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease: a Double-blind, Placebo-controlled Randomised Trial Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
27 An Open, Multicenter Clinical Trial to Investigate the Immunogenicity and Safety of the Pneumococcal 7-Valent Conjugate Vaccine (PREVENAR) in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
28 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
29 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
30 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
31 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
32 Preventing Stroke Triggers in Children With Sickle Cell Anaemia in Mulago Hospital, Kampala (PREST ): a Randomized Control Trial Unknown status NCT03666806 Phase 2, Phase 3
33 A Phase 3, Prospective, Randomized, Double-Blind, Placebo Controlled, Multi-center Study of SC411 for Sickle Cell Disease Unknown status NCT02604368 Phase 3 SC411;Placebo
34 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease, a Pilot Study Unknown status NCT02801292 Phase 3 Ketamine
35 Omega 3 Fatty Acid Therapy for Prevention of Vaso-occlusive Crisis and Manifestations in Omani Patients With Sickle Cell Disease Unknown status NCT02525107 Phase 3
36 Development of a Ready-to-use Nutraceutical Food for Patients With Sickle Cell Disease (SCD): Testing of Vascular Support Components Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
37 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
38 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
39 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
40 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC): A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Trial of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT01737814 Phase 3 Saline;MST-188
41 A Randomized, Controlled, Double-blind Clinical Trial of L-arginine as Adjuvant Therapy for Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
42 Evaluation of Repeat Administration of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC-E): An Open-Label Safety Extension Trial Assessing Repeat Administration of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT02449616 Phase 3 MST-188
43 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
44 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
45 Hypnosis as a Pain and Symptom Management Strategy in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
46 A PHASE III, PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER STUDY OF L GLUTAMINE THERAPY FOR SICKLE CELL ANEMIA AND SICKLE ß0-THALASSEMIA Completed NCT01179217 Phase 3 L-glutamine;Placebo
47 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
48 Novel Use Of Hydroxyurea in an African Region With Malaria Completed NCT01976416 Phase 3 Hydroxyurea;Placebo
49 Optimizing Hydroxyurea Therapy in Children With Sickle Cell Anemia In Malaria Endemic Areas: The NOHARM Maximum Tolerated Dose (MTD) Study Completed NCT03128515 Phase 3 Hydroxyurea
50 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Sodium phenylbutyrate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: hemoglobin sc disease

Genetic Tests for Sickle Cell Anemia

Genetic tests related to Sickle Cell Anemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 29

Anatomical Context for Sickle Cell Anemia

MalaCards organs/tissues related to Sickle Cell Anemia:

40
Bone, Bone Marrow, Endothelial, Liver, Spleen, Kidney, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Sickle Cell Anemia:
# Tissue Anatomical CompartmentCell Relevance
1 Blood Peripheral Blood Erythrocytes Affected by disease

Publications for Sickle Cell Anemia

Articles related to Sickle Cell Anemia:

(show top 50) (show all 6210)
# Title Authors PMID Year
1
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 61 57 6
7993409 1994
2
Elderly survivors with homozygous sickle cell disease. 6 57
17287491 2007
3
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 57 6
4232783 1968
4
A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease. 57 61
31199090 2019
5
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. 57 61
30501550 2019
6
A Phase 3 Trial of l-Glutamine in Sickle Cell Disease. 61 57
30021096 2018
7
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. 57 61
25203083 2014
8
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 61 57
21057501 2010
9
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 61 57
18245381 2008
10
Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. 57 61
18063756 2007
11
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. 57 61
15778708 2005
12
Impaired vasodilation by red blood cells in sickle cell disease. 61 57
15699345 2005
13
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 6 61
11830454 2002
14
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 6 61
11741197 2002
15
Monoclonal antibodies to alphaVbeta3 (7E3 and LM609) inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor. 61 57
10627437 2000
16
First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. 61 57
10328069 1999
17
Transgenic knockout mice exclusively expressing human hemoglobin S after transfer of a 240-kb betas-globin yeast artificial chromosome: A mouse model of sickle cell anemia. 61 57
9843985 1998
18
Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 61 57
9616120 1998
19
Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive "switching" agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 61 57
8982148 1996
20
Sickle cell anemia in septuagenarians. 61 57
7579371 1995
21
Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 61 57
7715639 1995
22
Fatal pneumococcal septicemia in hemoglobin SC disease. 57 61
8201467 1994
23
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 61 6
8199597 1994
24
A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. 61 57
7677966 1993
25
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. 57 61
7677965 1993
26
Herrick's 1910 case report of sickle cell anemia. The rest of the story. 61 57
2642320 1989
27
Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. 6 61
2898142 1988
28
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 61 6
2893541 1988
29
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 6 61
3821796 1987
30
Hydroxyurea induction of hemoglobin F production in sickle cell disease: relationship between cytotoxicity and F cell production. 61 57
2418898 1986
31
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 61 57
2999980 1985
32
Developmental pattern of splenic dysfunction in sickle cell disorders. 61 57
2412200 1985
33
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 61 6
2579336 1985
34
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 61 6
6584911 1984
35
Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the gamma-delta-beta-globin gene complex. 61 57
6192443 1983
36
Clinical, hematological, and biochemical features of Hb SC disease. 61 57
7137165 1982
37
Use of restriction endonucleases for mapping the allele for beta s-globin. 61 6
6285354 1982
38
Direct identification of sickle cell anemia by blot hybridization. 61 6
6272289 1981
39
Sickle cell anemia a molecular disease. 6 61
15395398 1949
40
Sickle Cell Disease. 57
28423290 2017
41
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity. 57
23018751 2013
42
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 57
22975760 2013
43
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 6
22075726 2011
44
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. 57
21998251 2011
45
Sickle hemoglobin confers tolerance to Plasmodium infection. 6
21529713 2011
46
Sickle-cell disease. 57
21131035 2010
47
The inherited diseases of hemoglobin are an emerging global health burden. 57
20233970 2010
48
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 6
20305663 2010
49
Infection in sickle cell disease: a review. 57
19497774 2010
50
Haemoglobin F modulation in childhood sickle cell disease. 57
19036119 2009

Variations for Sickle Cell Anemia

ClinVar genetic disease variations for Sickle Cell Anemia:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC110006319 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
2 LOC106099062 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
3 LOC106099062 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
4 LOC106099062 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
5 HBB NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
6 LOC106099062 NM_000518.5(HBB):c.112del (p.Trp38fs) Deletion Pathogenic 15431 rs63750532 11:5248010-5248010 11:5226780-5226780
7 LOC106099062 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
8 LOC106099062 NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV Pathogenic 15459 rs33951465 11:5248177-5248177 11:5226947-5226947
9 LOC106099062 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
10 LOC106099062 NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV Pathogenic 15403 rs63750783 11:5248205-5248205 11:5226975-5226975
11 LOC106099062 NM_000518.5(HBB):c.25_26del (p.Lys9fs) Deletion Pathogenic 15413 rs35497102 11:5248226-5248227 11:5226996-5226997
12 LOC106099062 NM_000518.5(HBB):c.20del (p.Glu7fs) Deletion Pathogenic 15418 rs63749819 11:5248232-5248232 11:5227002-5227002
13 LOC106099062 NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV Pathogenic 15434 rs33941849 11:5248250-5248250 11:5227020-5227020
14 HBB NM_000518.5(HBB):c.-78A>G SNV Pathogenic 15471 rs33931746 11:5248329-5248329 11:5227099-5227099
15 HBB NM_000518.5(HBB):c.-106G>C SNV Pathogenic 36281 rs63750681 11:5248357-5248357 11:5227127-5227127
16 HBB NM_000518.5(HBB):c.-137C>T SNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
17 LOC110006319 NM_000518.5(HBB):c.*110T>C SNV Pathogenic 36332 rs33978907 11:5246718-5246718 11:5225488-5225488
18 LOC110006319 NM_000518.5(HBB):c.316-2A>G SNV Pathogenic 21191 rs33914668 11:5246958-5246958 11:5225728-5225728
19 LOC110006319 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
20 LOC110006319 NM_000518.5(HBB):c.316-197C>T SNV Pathogenic 15458 rs34451549 11:5247153-5247153 11:5225923-5225923
21 LOC106099062 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
22 LOC106099062 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 11:5248232-5248232 11:5227002-5227002
23 LOC110006319 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Pathogenic 15152 rs33946267 11:5246908-5246908 11:5225678-5225678
24 LOC106099062 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic 15126 rs33930165 11:5248233-5248233 11:5227003-5227003
25 LOC106099062 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
26 LOC106099062 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
27 LOC106099062 NM_000518.5(HBB):c.92+1G>T SNV Pathogenic 15437 rs33971440 11:5248159-5248159 11:5226929-5226929
28 LOC106099062 NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV Pathogenic 15234 rs33960103 11:5248160-5248160 11:5226930-5226930
29 LOC106099062 NM_000518.5(HBB):c.85dup (p.Leu29fs) Duplication Pathogenic 15432 rs35532010 11:5248166-5248167 11:5226936-5226937
30 LOC106099062 NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV Pathogenic 15239 rs35424040 11:5248170-5248170 11:5226940-5226940
31 LOC106099062 NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) Duplication Pathogenic 36308 rs35699606 11:5248224-5248225 11:5226994-5226995
32 LOC106099062 NM_000518.5(HBB):c.17_18del (p.Pro6fs) Deletion Pathogenic 15422 rs34889882 11:5248234-5248235 11:5227004-5227005
33 HBB NM_000518.5(HBB):c.-78A>C SNV Pathogenic 15470 rs33931746 11:5248329-5248329 11:5227099-5227099
34 LOC110006319 NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV Pathogenic 15202 rs33949486 11:5246862-5246862 11:5225632-5225632
35 LOC106099062 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
36 LOC106099062 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
37 LOC106099062 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 11:5248154-5248154 11:5226924-5226924
38 LOC106099062 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
39 HBB NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
40 LOC106099062 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
41 LOC110006319 NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV Pathogenic 15404 rs33946267 11:5246908-5246908 11:5225678-5225678
42 LOC110006319 NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV Pathogenic 15352 rs35256489 11:5246940-5246940 11:5225710-5225710
43 LOC110006319 NM_000518.5(HBB):c.316-7C>A SNV Pathogenic 551906 rs34483965 11:5246963-5246963 11:5225733-5225733
44 LOC106099062 NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV Pathogenic 15406 rs33922842 11:5247992-5247992 11:5226762-5226762
45 LOC106099062 NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) Deletion Pathogenic 15417 rs80356821 11:5247993-5247996 11:5226763-5226766
46 LOC106099062 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
47 LOC106099062 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 11:5248232-5248232 11:5227002-5227002
48 LOC110006319 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic/Likely pathogenic 15292 rs33946267 11:5246908-5246908 11:5225678-5225678
49 LOC110006319 NM_000518.5(HBB):c.389C>T (p.Ala130Val) SNV Likely pathogenic 15245 rs111645889 11:5246883-5246883 11:5225653-5225653
50 HBB NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159

UniProtKB/Swiss-Prot genetic disease variations for Sickle Cell Anemia:

73
# Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

Expression for Sickle Cell Anemia

Search GEO for disease gene expression data for Sickle Cell Anemia.

Pathways for Sickle Cell Anemia

GO Terms for Sickle Cell Anemia

Cellular components related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 VCAM1 TNF HMOX1 HBB HBA1 F2
2 blood microparticle GO:0072562 9.55 HBG2 HBB HBA1 F2 APOL1
3 endocytic vesicle lumen GO:0071682 9.32 HBB HBA1
4 hemoglobin complex GO:0005833 9.26 HBG2 HBG1 HBB HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.92 HBG2 HBG1 HBB HBA1

Biological processes related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.83 VCAM1 TNF HMOX1 CCR5
2 blood coagulation GO:0007596 9.71 HBG2 HBG1 HBB F2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.67 TNF F2 EPO
4 response to nutrient GO:0007584 9.65 VCAM1 UGT1A1 EPO
5 erythrocyte maturation GO:0043249 9.51 G6PD EPO
6 response to hydrogen peroxide GO:0042542 9.5 HMOX1 HBB HBA1
7 cytolysis by host of symbiont cells GO:0051838 9.46 F2 APOL1
8 cellular oxidant detoxification GO:0098869 9.46 HBG2 HBG1 HBB HBA1
9 response to salt stress GO:0009651 9.43 TNF EPO
10 acute-phase response GO:0006953 9.43 UGT1A1 F2 EPO
11 heme catabolic process GO:0042167 9.37 UGT1A1 HMOX1
12 hydrogen peroxide catabolic process GO:0042744 9.26 HBG2 HBG1 HBB HBA1
13 oxygen transport GO:0015671 8.92 HBG2 HBG1 HBB HBA1

Molecular functions related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 HMOX1 HBG2 HBG1 HBB HBA1
2 peroxidase activity GO:0004601 9.67 HBG2 HBG1 HBB HBA1
3 oxygen binding GO:0019825 9.62 HBG2 HBG1 HBB HBA1
4 oxygen carrier activity GO:0005344 9.46 HBG2 HBG1 HBB HBA1
5 hemoglobin alpha binding GO:0031721 9.43 HBG2 HBG1 HBB
6 organic acid binding GO:0043177 9.26 HBG2 HBG1 HBB HBA1
7 haptoglobin binding GO:0031720 8.92 HBG2 HBG1 HBB HBA1

Sources for Sickle Cell Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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