SCD
MCID: SCK003
MIFTS: 67

Sickle Cell Anemia (SCD) malady

Immune, Blood, Nephrological categories

Summaries for Sickle Cell Anemia

Sources:
43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. the cells are shaped like a crescent or sickle. they don't last as long as normal, round red blood cells. this leads to anemia. the sickle cells also get stuck in blood vessels, blocking blood flow. this can cause pain and organ damage. a genetic problem causes sickle cell anemia. people with the disease are born with two sickle cell genes, one from each parent. if you only have one sickle cell gene, it's called sickle cell trait. about 1 in 12 african americans has sickle cell trait. the most common symptoms are pain and problems from anemia. anemia can make you feel tired or weak. in addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet. a blood test can show if you have the trait or anemia. most states test newborn babies as part of their newborn screening programs. sickle cell anemia has no widely available cure. treatments can help relieve symptoms and lessen complications. researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines. nih: national heart, lung, and blood institute

MalaCards: Sickle Cell Anemia, also known as hemoglobin sc disease, is related to thalassemia and sickle cell disease. An important gene associated with Sickle Cell Anemia is HBB (hemoglobin, beta), and among its related pathways are Metabolism and Biological oxidations. The drug sodium phenylbutyrate and the compounds bilirubin diglucuronide and (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide) have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain.

NIH Rare Diseases:43 Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. these cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). the sickle cells also get stuck in blood vessels, blocking blood flow. signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). this condition is caused by mutations in the hbb gene and is inherited in an autosomal recessive pattern. treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. last updated: 11/10/2011

Wikipedia:64 Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood... more...

Description from OMIM:47 603903

Aliases & Classifications for Sickle Cell Anemia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood, Nephrological


Characteristics (Orphanet epidemiological data):

49
sickle cell anemia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

sickle cell anemia 8 9 64 43 47 10 49 34 31
hemoglobin sc disease 8 43 20 61
hemoglobin s disease 64 43
sickle cell disease 43 49
sickle-cell/hb-c disease without crisis 8
sickling disorder due to hemoglobin s 43
hemoglobin s disease without crisis 8
hb-ss disease without crisis 8
anemia, sickle cell 61
hb-s/hb-c disease 8
sickle cell trait 61
herrick's anemia 64
drepanocytosis 8
hb sc disease 8
hb s disease 64
hbs disease 43
scd 64


External Ids:

Disease Ontology8 DOID:10923
NCIt40 C34383
ICD9CM27 282.6, 282.60
OMIM47 603903
MeSH35 D000755
MESH via Orphanet36 D000755
ICD10 via Orphanet26 D57
SNOMED-CT via Orphanet58 127040003, 417357006
UMLS via Orphanet62 C0002895

Related Diseases for Sickle Cell Anemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 279)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia31.4G6PD, UGT1A1, HBG1, HBB, BCL11A
2sickle cell disease31.3G6PD, UGT1A1, GLA, HBG1, HBB
3beta thalassemia31.1G6PD, UGT1A1, HBG1, HBB
4alpha thalassemia31.1HBB, HBG1, UGT1A1, G6PD
5deficiency anemia30.9HPR, HBB, HBG1, G6PD
6cholelithiasis30.6UGT1A1
7atherosclerosis30.2GLA, G6PD
8hereditary spherocytosis30.1UGT1A1, G6PD
9acute chest syndrome10.8
10hemoglobin d disease10.6
11hemoglobin c disease10.6
12priapism10.6
13sickle cell - hemoglobin d disease10.6
14sickle cell - hemoglobin c disease10.6
15splenic sequestration10.6
16asthma10.5
17splenic disease10.5
18hepatitis c10.5
19hepatitis a10.5
20hemoglobin sickle-beta thalassemia10.5
21hypersplenism10.4
22pulmonary function10.4
23hemoglobin e disease10.4
24hemosiderosis10.4
25adult syndrome10.4
26t cell deficiency10.4
27hemoglobin s beta-thalassemia10.4
28hemoglobin so10.4
29chronic pain10.4
30sickle cell - hemoglobin e disease10.4
31hemoglobin c - beta-thalassemia10.4
32vein disease10.4
33lip disease10.4
34papillary carcinoma10.3
35papillary renal cell carcinoma10.3
36papillary renal carcinoma10.3
37bronchitis10.3
38brain disease10.3
39young syndrome10.3
40hereditary persistence of fetal hemoglobin - sickle cell disease10.3
41moyamoya disease10.3
42bacteriuria10.3
43myelitis10.3
44intrahepatic cholestasis10.3
45splenic infarction10.3
46hepatitis d10.3
47n syndrome10.3
48acute leukemia10.3
49b cell deficiency10.3
50biliary tract disease10.3

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



Diseases related to sickle cell anemia

Clinical Features for Sickle Cell Anemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

603903

Drugs & Therapeutics for Sickle Cell Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sickle Cell Anemia

Drug clinical trials:

Search ClinicalTrials for Sickle Cell Anemia

Search NIH Clinical Center for Sickle Cell Anemia

Search CenterWatch for Sickle Cell Anemia

Inferred drug relations via UMLS61/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.

Genetic Tests for Sickle Cell Anemia

Sources:
20GeneTests
See all sources

Genetic tests related to Sickle Cell Anemia:

id Genetic test Affiliating Genes
1 Hemoglobin Sc20 HBB

Anatomical Context for Sickle Cell Anemia

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Sickle Cell Anemia:

33
Bone marrow, Spleen, Brain, Spinal cord, Heart, Colon, Kidney, Liver, Lung, Pancreas, Skin, Placenta, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Olfactory bulb, Fetal liver, Fetal lung

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Sickle Cell Anemia:
id TissueAnatomical CompartmentCell Relevance
1 BloodPeripheral BloodErythrocytes Potential therapeutic candidate, affected by disease

Animal Models for Sickle Cell Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Sickle Cell Anemia

Sources:
51PubMed
See all sources

Articles related to Sickle Cell Anemia:

(show top 50)    (show all 641)
idTitleAuthorsYear
1
Pial synangiosis for moyamoya syndrome in children with sickle cell anemia: a comprehensive review of reported cases. (24380478)
2014
2
Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia. (23813357)
2013
3
Genetic modifiers of sickle cell anemia in the BABY HUG cohort: influence on laboratory and clinical phenotypes. (23606168)
2013
4
Effect of a Congolese herbal medicine used in sickle cell anemia on the expression of plasminogen activators in human coronary aortic endothelial cells culture. (23376284)
2013
5
Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia. (23657515)
2013
6
Sickle cell anemia: reference values of cerebral blood flow determined by continuous arterial spin labeling MRI. (23859242)
2013
7
Does increased red blood cell deformability raise the risk for osteonecrosis in sickle cell anemia? (23580637)
2013
8
Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia. (23725037)
2013
9
Omega-3 fatty acids in sickle cell anemia. (23520332)
2013
10
Male gender, increased blood viscosity, body mass index and triglyceride levels are independently associated with systemic relative hypertension in sickle cell anemia. (23785465)
2013
11
Comments on: "Impact of iron overload on interleukin-10 levels, biochemical parameters and oxidative stress in patients with sickle cell anemia". (23580874)
2013
12
Nocturnal oxygen desaturation and disordered sleep as a potential factor in executive dysfunction in sickle cell anemia. (22114954)
2012
13
Caries prevalence and socioeconomic factors in children with sickle cell anemia. (22344337)
2012
14
Sickle cell anemia: iron availability and nocturnal oximetry. (23066366)
2012
15
Isovolemic hemodilution-red cell exchange for prevention of cerebrovascular accident in sickle cell anemia: the standard operating procedure. (22302664)
2012
16
Novel test method (sickle confirm) to differentiate sickle cell anemia from sickle cell trait for potential use in developing countries. (22458046)
2012
17
Reply: genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil. (22899046)
2012
18
Silent cerebral infarcts: a review on a prevalent and progressive cause of neurologic injury in sickle cell anemia. (22354000)
2012
19
Nitric oxide status in sickle cell anemia. (23049433)
2012
20
DNA damage in leukocytes of sickle cell anemia patients is associated with hydroxyurea therapy and with HBB*S haplotype. (22918118)
2012
21
First presentation of sickle cell anemia in a 3.5-year-old girl: a case report. (22737578)
2012
22
Advantages of isovolemic hemodilution-red cell exchange therapy to prevent recurrent stroke in sickle cell anemia patients. (21786315)
2011
23
Sickle cell anemia pathophysiology: back to the data. (21264895)
2011
24
The influence of socioeconomic status on the hemoglobin level and anthropometry of sickle cell anemia patients in steady state at the Lagos University Teaching Hospital. (22248942)
2011
25
The safety and efficacy of hydroxycarbamide in infants with sickle cell anemia. (21801131)
2011
26
Role of extracellular hemoglobin in thrombosis and vascular occlusion in patients with sickle cell anemia. (21490767)
2011
27
Fetal hemoglobin reactivation and cell engineering in the treatment of sickle cell anemia. (22287860)
2011
28
Evaluation of the psychological problems in children with sickle cell anemia and their families. (21345077)
2011
29
Asthma is a distinct comorbid condition in children with sickle cell anemia with elevated total and allergen-specific IgE levels. (21617566)
2011
30
Sickle cell anemia: delayed diagnosis in Bahia, Brazil--a largely Afro-descendant population. (21749031)
2011
31
Neurocognitive complications of sickle cell anemia in adults. (20460628)
2010
32
A normative study of the components of niprisan--an herbal medicine for sickle cell anemia. (22435571)
2010
33
Salmonella pyomyositis complicating sickle cell anemia: a case report. (20591146)
2010
34
Premarital screening test results for I^-thalassemia and sickle cell anemia trait in east Mediterranean region of Turkey. (20795773)
2010
35
"Pseudo-sickle" cell anemia. (19710599)
2009
36
A novel human gamma-globin gene vector for genetic correction of sickle cell anemia in a humanized sickle mouse model: critical determinants for successful correction. (19474450)
2009
37
Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia. (19608759)
2009
38
Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey. (19065329)
2008
39
Asthma is associated with acute chest syndrome, but not with an increased rate of hospitalization for pain among children in France with sickle cell anemia: a retrospective cohort study. (18815195)
2008
40
Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. (17299377)
2007
41
Abnormal pulmonary function in adults with sickle cell anemia. (16556694)
2006
42
Hyperhemolysis during the evolution of uncomplicated acute painful episodes in patients with sickle cell anemia. (16398738)
2006
43
ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia. (16956834)
2006
44
Massive splenic infarction in Saudi patients with sickle cell anemia: a unique manifestation. (11891808)
2002
45
Immunotactoid glomerulopathy in sickle cell anemia. (11198611)
2001
46
Combined pressure control/high frequency ventilation in adult respiratory distress syndrome and sickle cell anemia. (7988230)
1994
47
Smoking is a factor in causing acute chest syndrome in sickle cell anemia. (1578502)
1992
48
Interferon-gamma modulates fetal hemoglobin synthesis in sickle cell anemia and thalassemia. (1700029)
1990
49
Biliary tract disease and sickle-cell anemia in Accra E.Q [proceedings]. (1236263)
1975
50
Clinico-pathological conference. Sickle cell anemia complicated by anuria. (5247145)
1968

Genetic Variations for Sickle Cell Anemia

Expression for genes affiliated with Sickle Cell Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sickle Cell Anemia

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

Pathways for genes affiliated with Sickle Cell Anemia

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6G6PD, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
2
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
3
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
4
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
5
Hide members
10.6UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4
6
Acetaminophen metabolism
Hide members
10.5UGT1A4, UGT1A1, UGT1A10, UGT1A3
7
Hide members
10.5UGT1A4, UGT1A1, UGT1A10, UGT1A3
8
Hide members
10.5UGT1A3, UGT1A1, UGT1A4
9
Hide members
10.5UGT1A3, UGT1A10, UGT1A1
1010.5UGT1A4, UGT1A10, UGT1A3
11
Hide members
10.5UGT1A10, UGT1A4
1210.5UGT1A3, UGT1A10

Compounds for genes affiliated with Sickle Cell Anemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1bilirubin diglucuronide45 2412.0UGT1A3, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
2(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)2411.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
3aldosterone 18-glucuronide45 2412.0UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4, UGT1A3
4etiocholanolone45 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
5androsterone glucuronide45 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
63-alpha-androstanediol glucuronide45 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
7estriol29 11 2413.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
8codeine45 50 29 11 2415.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
92-methoxyestradiol45 60 2413.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
10testosterone45 60 11 2414.0G6PD, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
11ethyl glucuronide45 2412.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
12glucuronide4511.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
13estrone45 29 11 2414.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
14valproic acid45 50 11 2414.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3, HBG1
15cotinine45 2412.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
16uridine diphosphate4511.0UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4
17imipramine45 50 29 11 2415.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
18n-hydroxy phip4511.0UGT1A4, UGT1A1, UGT1A10, UGT1A7
19tamoxifen45 50 29 1114.0G6PD, UGT1A4, UGT1A1, UGT1A3, HBB, HPR
20acetaminophen45 2 50 11 2415.0G6PD, UGT1A4, UGT1A1, UGT1A10, UGT1A7
21amine4511.0UGT1A4, UGT1A1, UGT1A7, UGT1A3, HBB
22benzidine4511.0HBB, HBG1, UGT1A1, UGT1A4
23estradiol45 11 2412.9UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
24nicotine45 50 29 1113.9UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
25propofol45 50 1112.9UGT1A4, UGT1A1, UGT1A10, UGT1A3
26retinoic acid45 2411.9UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
27Ezogabine 1110.9UGT1A3, UGT1A1, UGT1A4
28lamotrigine45 1111.9UGT1A3, UGT1A1, UGT1A4
29troglitazone45 29 60 1113.9UGT1A4, UGT1A1, UGT1A10, UGT1A3
30mycophenolic acid45 50 1112.9UGT1A1, UGT1A10, UGT1A7
31p-nitrophenol45 1111.9UGT1A3, UGT1A1, UGT1A4
32valine4510.9G6PD, GLA, HBB, HPR
33diclofenac45 29 50 1113.8UGT1A3, UGT1A1, UGT1A4
34n-acetylbenzidine4510.8UGT1A1, UGT1A4
35lactose45 1111.8G6PD, GLA, HPR
36estrogen4510.8G6PD, UGT1A4, UGT1A1, UGT1A10, HBB, HPR
37sn38 glucuronide4510.8UGT1A7, UGT1A1
38uridine45 11 2412.8UGT1A4, UGT1A1, UGT1A7
39eltrombopag50 1111.8UGT1A3, UGT1A1
40losartan45 50 29 1113.8UGT1A3, UGT1A10, UGT1A1
4123-diphosphoglycerate4510.7HBB, G6PD
42udp glucuronic acid4510.7UGT1A10, UGT1A1
43glucose 6-phosphate45 2411.7G6PD, UGT1A1, HBB
44hydroxyurea45 50 1112.7HBB, HBG1, UGT1A1
45dimethyl sulfate4510.6HBG1, HBB
46azathioprine45 50 2 1113.6HBB, HBG1, G6PD
47morphine45 50 29 1113.5UGT1A4, UGT1A1, UGT1A3
48flunitrazepam45 29 1112.5UGT1A3, UGT1A1
49fructose-1,6-bisphosphate4510.4HPR, G6PD
50porphobilinogen45 11 2412.2HBB, HBG1

GO Terms for genes affiliated with Sickle Cell Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Sickle Cell Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00583310.5HBB, HBG1
2endoplasmic reticulum membraneGO:00578910.3UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4

Biological processes related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1flavone metabolic processGO:05155210.7UGT1A7, UGT1A1, UGT1A10
2xenobiotic glucuronidationGO:05269710.7UGT1A1, UGT1A7, UGT1A3
3flavonoid glucuronidationGO:05269610.7UGT1A1, UGT1A7, UGT1A3
4cellular glucuronidationGO:05269510.6UGT1A10, UGT1A1, UGT1A4
5retinoic acid metabolic processGO:04257310.6UGT1A1, UGT1A7, UGT1A3
6metabolic processGO:00815210.5UGT1A3, UGT1A10, UGT1A5
7erythrocyte maturationGO:04324910.5G6PD, KLF2
8detection of chemical stimulus involved in sensory perception of smellGO:05091110.4OR51B6, OR51B5, OR51B2
9sensory perception of smellGO:00760810.2OR51B2, OR51B5, OR51B6

Molecular functions related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:01502010.7UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4
2retinoic acid bindingGO:00197210.7UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
3protein homodimerization activityGO:04280310.7G6PD, UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
4protein heterodimerization activityGO:04698210.6UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3, BCL11A
5oxygen transporter activityGO:00534410.5HBB, HBG1
6enzyme bindingGO:01989910.5UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
7hemoglobin bindingGO:03049210.2HPR, HBB

Products for genes affiliated with Sickle Cell Anemia

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Sources for Sickle Cell Anemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet