MCID: SCK003
MIFTS: 70

Sickle Cell Anemia malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Reproductive diseases, Bone diseases, Endocrine diseases categories

Aliases & Classifications for Sickle Cell Anemia

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Sources:
46OMIM, 30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 64Wikipedia, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 48Orphanet, 32MedlinePlus, 61UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Sickle Cell Anemia:

Name: Sickle Cell Anemia 46 30 8 9 64 42 10 48 32
Hemoglobin Sc Disease 8 42 20 61
Hemoglobin S Disease 64 42 20
Hemoglobin C Disease 42 61
Sickle-Cell/hb-C Disease Without Crisis 8
Sickling Disorder Due to Hemoglobin S 42
Hemoglobin Ss Disease Without Crisis 61
Hemoglobin S Disease Without Crisis 8
Hb-Ss Disease Without Crisis 8
Anemia, Sickle Cell 61
 
Sickle Cell Disease 48
Sickle Cell Trait 61
Hb-S/hb-C Disease 8
Herrick's Anemia 64
Drepanocytosis 8
Hb Sc Disease 8
Hb S Disease 64
Hbs Disease 42
Scd 64


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 603903
Disease Ontology8 DOID:10923
ICD9CM27 282.60, 282.6
NCIt39 C34383
MeSH33 D000755
Orphanet48 232
MESH via Orphanet34 D000755
ICD10 via Orphanet26 D57.0, D57.1, D57.2
UMLS via Orphanet62 C0002895

Summaries for Sickle Cell Anemia

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MedlinePlus:32 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 based summary: Sickle Cell Anemia, also known as hemoglobin sc disease, is related to thalassemia and cholelithiasis, and has symptoms including autosomal recessive inheritance, retinopathy and hematuria. An important gene associated with Sickle Cell Anemia is HBB (hemoglobin, beta), and among its related pathways are thyroid hormone metabolism II (via conjugation and/or degradation) and AHR Pathway. The drug sodium phenylbutyrate and the compounds uridine diphosphate and imipramine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart.

NIH Rare Diseases:42 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

OMIM:46 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage.... (603903) more...

Related Diseases for Sickle Cell Anemia

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



Diseases related to sickle cell anemia

Symptoms for Sickle Cell Anemia

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Clinical features from OMIM:

603903

HPO human phenotypes related to Sickle Cell Anemia:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinopathy HP:0000488
3 hematuria HP:0000790
4 jaundice HP:0000952
5 cholelithiasis HP:0001081
6 cardiomegaly HP:0001640
7 splenomegaly HP:0001744
8 hemolytic anemia HP:0001878
9 hepatomegaly HP:0002240
10 increased red cell sickling tendency HP:0008346
11 priapism HP:0200023

Drugs & Therapeutics for Sickle Cell Anemia

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Genetic Tests for Sickle Cell Anemia

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Genetic tests related to Sickle Cell Anemia:

id Genetic test Affiliating Genes
1 Hemoglobin Sc20 HBB
2 Hemoglobin Ss20 HBB

Anatomical Context for Sickle Cell Anemia

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MalaCards organs/tissues related to Sickle Cell Anemia:

31
Bone, Testes, Heart, Lung, Endothelial, Bone marrow, Liver, Spleen, Brain, Kidney, Neutrophil, Spinal cord, Skeletal muscle, Colon, Pancreas, Skin, Placenta, Myeloid, Monocytes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

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Publications for Sickle Cell Anemia

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Articles related to Sickle Cell Anemia:

(show top 50)    (show all 660)
idTitleAuthorsYear
1
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia. (25703683)
2015
2
TNF-I+, IFN-I^, IL-10, and IL-4 levels were elevated in a murine model of human sickle cell anemia maintained on a high protein/calorie diet. (24281564)
2014
3
Bacteremia Caused by Microbacterium binotii in a Patient with Sickle Cell Anemia. (24197889)
2014
4
Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia. (25175566)
2014
5
Adrenal myelolipoma, cholelithiasis and calcified spleen: retrospective diagnosis of sickle cell anemia using a novel triad of abdominal imaging findings. (25053687)
2014
6
Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia. (25305165)
2014
7
Effect of extended-release niacin on serum lipids and on endothelial function in adults with sickle cell anemia and low high-density lipoprotein cholesterol levels. (24035168)
2013
8
Malnutrition in Sickle Cell Anemia: Implications for Infection, Growth, and Maturation. (24312698)
2013
9
Spectral detection of sickle cell anemia and thalassemia. (24284096)
2013
10
Hydroxyurea treatment decreases glomerular hyperfiltration in children with sickle cell anemia. (23255310)
2013
11
Transcranial Doppler velocity and brain MRI/MRA changes in children with sickle cell anemia on chronic transfusions to prevent primary stroke. (23625812)
2013
12
Severe painful vaso-occlusive crises and mortality in a contemporary adult sickle cell anemia cohort study. (24224021)
2013
13
Pain and other non-neurological adverse events in children with sickle cell anemia and previous stroke who received hydroxyurea and phlebotomy or chronic transfusions and chelation: results from the SWiTCH clinical trial. (23861242)
2013
14
Tissue factor and thrombin in sickle cell anemia. (22398014)
2012
15
Zoster myelitis in sickle cell anemia. (22246022)
2012
16
Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans. (22139998)
2012
17
Advantages of isovolemic hemodilution-red cell exchange therapy to prevent recurrent stroke in sickle cell anemia patients. (21786315)
2011
18
Spontaneous epidural hematoma: a rare complication of sickle cell anemia. (21483142)
2011
19
Gated myocardial perfusion scintigraphy in children with sickle cell anemia: correlation with echocardiography. (21458111)
2011
20
Proteinuria among adult sickle cell anemia patients in Nigeria. (21311153)
2011
21
Sickle cell anemia pathophysiology: back to the data. (21264895)
2011
22
Determination of I^ haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil. (21931513)
2011
23
Homozygous sickle cell anemia and secondary complications: a case study. (21657139)
2011
24
Tibial chronic osteomyelitis due to Propionibacterium acnes in a patient with sickle cell anemia. (19913448)
2010
25
Atrial septal defect closure on cardiopulmonary bypass in a sickle cell anemia: role of hydroxyurea and partial exchange transfusion. (20442545)
2010
26
Safety of pegylated interferon and ribavirin therapy for chronic hepatitis C in patients with sickle cell anemia. (21160993)
2010
27
Sickle cell anemia and vascular dysfunction: the nitric oxide connection. (20578237)
2010
28
Neurocognitive complications of sickle cell anemia in adults. (20460628)
2010
29
Pulmonary thrombi are not detected by 3D magnetic resonance angiography in adults with sickle cell anemia and an elevated triscuspid regurgitant jet velocity. (19743468)
2009
30
Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis. (19702628)
2009
31
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. (19644138)
2009
32
The prevalence of sickle cell anemia in Saudi children and adolescents. A community-based survey. (19271087)
2009
33
Usefulness and limitations of Bayesian network model as a mortality risk assessment tool in sickle cell anemia. (19338040)
2009
34
Acute splenic sequestration in a cohort of children with sickle cell anemia. (19319450)
2009
35
Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey. (19065329)
2008
36
A simple index using age, hemoglobin, and aspartate transaminase predicts increased intracerebral blood velocity as measured by transcranial Doppler scanning in children with sickle cell anemia. (18490379)
2008
37
Chronic multifocal osteomyelitis due to Clostridium difficile in an adolescent with sickle cell anemia. (18724265)
2008
38
Cytokine concentrations in bone marrow of stable sickle cell anemia patients. (17362693)
2007
39
Airway hyperresponsiveness and acute chest syndrome in children with sickle cell anemia. (17262858)
2007
40
Gene interactions and stroke risk in children with sickle cell anemia. (14615367)
2004
41
Immunotactoid glomerulopathy in sickle cell anemia. (11198611)
2001
42
Intracranial hemorrhage associated with splenic sequestration in a Saudi child with sickle cell anemia: case report and review of the literature. (17264555)
2001
43
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. (8892730)
1996
44
Cardiovascular function during rest and exercise in patients with sickle-cell anemia and coexisting alpha thalassemia-2. (8638648)
1996
45
Smoking is a factor in causing acute chest syndrome in sickle cell anemia. (1578502)
1992
46
Ultrasonography: hepatic vein thrombosis in sickle cell anemia. (7114404)
1982
47
Outcome of pregnancy in sickle cell anemia and sickle cell-hemoglobin C disease. An analysis of 181 pregnancies in 98 patients, and a review of the literature. (7416213)
1980
48
Sickle cell trait/hereditary persistence of fetal hemoglobin trait. Misdiagnosis as sickle cell anemia by newborn screening. (517474)
1979
49
HYPERSPLENISM IN SICKLE CELL ANEMIA. (14170620)
1964
50
Pregnancy with sickle cell anemia and placenta accreta. (14942979)
1952

Variations for Sickle Cell Anemia

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

63
id Symbol AA change Variation ID SNP ID
1HBBp.Glu7ValVAR_002863rs334

Clinvar genetic disease variations for Sickle Cell Anemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
2HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
3HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
4HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
5HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
6HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
7HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
8HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232
9HBBNM_000518.4(HBB): c.20A> T (p.Glu7Val)single nucleotide variantPathogenicrs334GRCh37Chr 11, 5248232: 5248232

Expression for genes affiliated with Sickle Cell Anemia

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

Pathways for genes affiliated with Sickle Cell Anemia

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Pathways related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6UGT1A10, UGT1A3
2
Show member pathways
AhR pathway36
9.6UGT1A6, UGT1A1
3
Show member pathways
bupropion degradation36
methylglyoxal degradation III36
nicotine degradation III36
nicotine degradation IV36
9.4UGT1A4, UGT1A10
4
Show member pathways
Nicotine metabolism36
9.0UGT1A4, UGT1A9
58.8UGT1A1, UGT1A6, UGT1A9
6
Show member pathways
8.4UGT1A3, UGT1A1, UGT1A9, UGT1A10
7
Show member pathways
7.7UGT1A9, UGT1A3, UGT1A4, UGT1A6, UGT1A1
87.7UGT1A4, UGT1A1, UGT1A6, UGT1A9, UGT1A3
97.6UGT1A6, UGT1A10, UGT1A3, UGT1A4, UGT1A9
10
Show member pathways
6.7UGT1A1, UGT1A6, UGT1A4, UGT1A7, UGT1A3, UGT1A9
11
Show member pathways
6.4UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7
12
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
6.4UGT1A9, UGT1A5, UGT1A6, UGT1A1, UGT1A10, UGT1A3
13
Show member pathways
6.4UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A5
14
Show member pathways
6.4UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A5
15
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
6.4UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A5
16
Show member pathways
6.4UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A5
17
Show member pathways
6.2UGT1A3, UGT1A4, UGT1A10, UGT1A7, UGT1A5, UGT1A6

Compounds for genes affiliated with Sickle Cell Anemia

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Compounds related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 149)
idCompoundScoreTop Affiliating Genes
1uridine diphosphate447.1UGT1A4, UGT1A7, UGT1A3, UGT1A10, UGT1A1, UGT1A6
2imipramine44 28 50 24 1111.0UGT1A1, UGT1A6, UGT1A9, UGT1A10, UGT1A3, UGT1A4
3glucuronide447.0UGT1A7, UGT1A1, UGT1A6, UGT1A9, UGT1A10, UGT1A3
4Deoxycholic acid 3-glucuronide246.9UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A9, UGT1A1
5Dopamine glucuronide246.9UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4
6Epinephrine glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
7Dextrorphan O-glucuronide246.9UGT1A7, UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10
8Isovalerylglucuronide246.9UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7
9Ketoprofen glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
10Inodxyl glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
116-Dehydrotestosterone glucuronide246.9UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7
12Cholic acid glucuronide246.9UGT1A7, UGT1A4, UGT1A3, UGT1A1, UGT1A6, UGT1A5
13Cortolone-3-glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
14Cotinineglucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
15Dehydroisoandrosterone 3-glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
16Dehydroepiandrosterone 3-glucuronide246.9UGT1A7, UGT1A4, UGT1A1, UGT1A6, UGT1A5, UGT1A9
17Pregnanediol-3-glucuronide246.9UGT1A7, UGT1A4, UGT1A1, UGT1A6, UGT1A5, UGT1A9
18Tyramine glucuronide246.9UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A9, UGT1A5
19Uridine 5'-diphosphate246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
20Triiodothyronine glucuronide246.9UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
21Uridine diphosphate glucuronic acid246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
22Valproic acid glucuronide246.8UGT1A3, UGT1A4, UGT1A7, UGT1A10, UGT1A9, UGT1A1
23Vitamin D2 3-glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
24Nicotine glucuronide246.8UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7
25Octanoylglucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
26Lithocholate 3-O-glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
27Phenethylamine glucuronide246.8UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A5
28Palmitoyl glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
292-methoxyestradiol44 60 248.8UGT1A3, UGT1A4, UGT1A7, UGT1A10, UGT1A1, UGT1A6
301-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid246.8UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7
311-Salicylate glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
323-alpha-androstanediol glucuronide44 247.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
3311-Hydroxyprogesterone 11-glucuronide246.8UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A5
3411-Oxo-androsterone glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
3511-beta-hydroxyandrosterone-3-glucuronide246.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
36estrone44 28 24 119.8UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
37valproic acid44 50 24 119.7HBG1, UGT1A1, UGT1A6, UGT1A9, UGT1A10, UGT1A3
38codeine44 28 50 24 1110.7UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4
393-alpha,20-alpha-dihydroxy-5-beta-pregnane 3-glucuronide246.7UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
403-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide246.7UGT1A3, UGT1A4, UGT1A7, UGT1A10, UGT1A9, UGT1A1
413-Methoxy-4-hydroxyphenylglycol glucuronide246.7UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
424-Hydroxyandrostenedione glucuronide246.6UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
435-alpha-Dihydrotestosterone glucuronide246.6UGT1A4, UGT1A7, UGT1A3, UGT1A10, UGT1A1, UGT1A6
445-Hydroxy-6-methoxyindole glucuronide246.6UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
453,17-Androstanediol glucuronide246.6UGT1A7, UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10
4616-alpha,17-beta-estriol 17-beta-D-glucuronide246.5UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A5
4717-alpha-estradiol-3-glucuronide246.4UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
4817-beta-estradiol glucuronide246.4UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
4915-hydroxynorandrostene-3,17-dione glucuronide246.3UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3
5025-Hydroxyvitamin D2-25-glucuronide246.1UGT1A10, UGT1A3, UGT1A4, UGT1A7, UGT1A9, UGT1A5

GO Terms for genes affiliated with Sickle Cell Anemia

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

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00058339.6HBG1, HBB
2integral component of membraneGO:00160216.8UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3, UGT1A4
3endoplasmic reticulum membraneGO:00057896.3UGT1A1, UGT1A6, UGT1A5, UGT1A9, UGT1A10, UGT1A3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fatty acid metabolic processGO:00459229.0UGT1A7, UGT1A9
2negative regulation of cellular glucuronidationGO:020010308.9UGT1A7, UGT1A9, UGT1A1
3drug metabolic processGO:00171448.8UGT1A1, UGT1A9, UGT1A7
4cellular glucuronidationGO:00526958.7UGT1A4, UGT1A10, UGT1A6, UGT1A1
5flavone metabolic processGO:00515528.6UGT1A7, UGT1A10, UGT1A9, UGT1A1
6flavonoid glucuronidationGO:00526968.5UGT1A1, UGT1A7, UGT1A3, UGT1A9
7xenobiotic glucuronidationGO:00526978.5UGT1A7, UGT1A3, UGT1A9, UGT1A1
8negative regulation of catalytic activityGO:00430868.5UGT1A1, UGT1A9, UGT1A7
9retinoic acid metabolic processGO:00425738.5UGT1A1, UGT1A9, UGT1A3, UGT1A7
10xenobiotic metabolic processGO:00068058.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
11small molecule metabolic processGO:00442817.9HBB, UGT1A1, UGT1A6, UGT1A9, UGT1A4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.8HBG1, HBB
2oxygen bindingGO:00198259.6HBB, HBG1
3protein kinase C bindingGO:00050809.5UGT1A10, UGT1A7
4enzyme inhibitor activityGO:00048578.8UGT1A1, UGT1A9, UGT1A7
5retinoic acid bindingGO:00019726.9UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A6
6enzyme bindingGO:00198996.9UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A6
7protein heterodimerization activityGO:00469826.9UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A6
8protein homodimerization activityGO:00428036.8UGT1A7, UGT1A4, UGT1A3, UGT1A10, UGT1A9, UGT1A6
9glucuronosyltransferase activityGO:00150206.6UGT1A1, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A10

Sources for Sickle Cell Anemia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet