Sickle Cell Anemia malady

NIH Rare Diseases: 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.³⁰

MalaCards: Sickle Cell Anemia, also known as hemoglobin sc disease, is related to alpha thalassemia and beta thalassemia. An important gene associated with Sickle Cell Anemia is HBB (hemoglobin, beta), and among its related pathways are Graft-versus-host disease and Cell adhesion molecules (CAMs). The drug phenylbutyrate sodium and the compounds hirudin and polyethylene glycol have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone marrow and monocytes, and related mouse phenotypes are respiratory system and renal/urinary system.

MedlinePlus: 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, which 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. a blood test can show if you have the trait or anemia. most states test newborn babies as part of their newborn screening programs.²³

Genetics Home Reference: Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.¹⁷

Wikipedia: Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia) (SCA) or drepanocytosis, is an autosomal...⁴⁴ more...

OMIM: 603903

Aliases & Descriptions:

sickle cell anemia 6 7 44 30 8 33 23 hemoglobin sc disease 6 30 16 43 hemoglobin s disease 44 30 hemoglobin s disease without crisis (disorder) 6 sickle-cell/hb-c disease without crisis 6 sickling disorder due to hemoglobin s 30 hb-ss disease without crisis 6 sickle cell disease 30

anemia, sickle cell 43 hb-s/hb-c disease 6 herrick's anemia 44 hb sc disease 6 hb s disease 44 hbs disease 30 scs 16 scd 44

Diseases related to sickle cell anemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 917)

id	Related Disease	Score	Top Affiliating Genes
1	alpha thalassemia	34.0	UGT1A1, G6PD, HBA1, HBA2, HBB, HBG1
2	beta thalassemia	33.2	HBA2, HBB, EPO
3	hemoglobinopathy	32.6	G6PD, HBA2, HBB, HBG1, PECAM1, EPO
4	acute chest syndrome	31.6	VCAM1, BLM, CFB, IL8, GP1BA, HLA-DQB1
5	cholelithiasis	31.2	BPGM, UGT1A1, CD79A, CD40LG, GUSB, GPT
6	priapism	30.8	BLM, CFB, F5, GLA, NOS3, G6PD
7	pyruvate kinase deficiency	30.2	MTHFR, G6PD, HBA2, EPO
8	thrombosis	30.2	MTHFR, F5, F2
9	gallbladder disease	30.1	UGT1A1, ALB, ALPP, GGT1
10	malaria	29.8	CD40LG, IL4R, IFNG, TNF, G6PD
11	asthma	29.6	MPO, IL13, IL4R, CCR5, IFNG, TNF
12	iron overload	29.3	SELP, BMP6, UGT1A1, FTH1, FTL, GPT
13	siderosis	29.1	FTH1, GPT, IGFBP3, IGF1, HBB
14	chronic myeloid leukemia	28.9	KITLG, SELP, MYB, MPO, ITGB3, IL3
15	immunodeficiency	28.8	SELL, BMP6, CD79A, CD40LG, IL13, IL4R
16	thromboembolism	28.5	VWF, SELP, MTHFR, ITGA2, F5, F2
17	hepatitis	28.3	SELP, GUSB, GPT, F2, ALB, HLA-A
18	familial combined hyperlipidemia	28.2	VWF, LDLR, GPT, TNF, PLAT, EDN1
19	fatty liver disease	28.0	FTH1, FTL, GPT, ALB, ALPP, TNF
20	pulmonary hypertension	28.0	VWF, SELP, BMP6, BMPR1A, CD40LG, IL8
21	intrahepatic cholangiocarcinoma	27.7	SELL, PBLD, GPT, F5, F2, ALB
22	periodontitis	27.5	MPO, IL8, CCR5, TNF, SLC17A5
23	osteomyelitis	27.3	BLM, CD79A, CD40LG, ITGA2, IL13, IL8
24	21-hydroxylase deficiency	27.2	CFB, IGFBP3, ALPP, HLA-DRB1, GGT1
25	membranous glomerulonephritis	27.0	CLU, CD79A, CCR5, ALB
26	thalassemia	26.9	VWF, SELE, VCAM1, MYB, BLM, BCL11A
27	non-hodgkin lymphoma	26.7	KITLG, SELL, MYB, IL3, IL4R, HLA-A
28	squamous cell carcinoma	26.4	RELA, SELL, MYB, BMP6, CLU, LDLR
29	amyloidosis	26.3	VWF, CLU, CD79A, CD40LG, MEFV, IL3
30	osteogenesis imperfecta	26.2	IGFBP3, IGF1, ALPP, ADAMTSL1, GGT1
31	human immunodeficiency virus infectious disease	26.1	SELL, CD79A, CD40LG, CCR5, IFNG, ALB
32	skin disease	26.1	SELE, SELL, CD79A, IL13, IL8, IFNG
33	primary hyperparathyroidism	26.1	KITLG, VWF, SELE, IGF1, ALB, ALPP
34	pulmonary function	25.9	MPO, IL13, IL8, GPT, IFNG, F5
35	cutaneous leishmaniasis	25.7	BMP6, IL13, IL4R, IL8, CCR5, GPT
36	allergic encephalomyelitis	25.6	BMP6, FTH1, IFNG, ICAM1, TNF
37	leukemia/lymphoma	25.6	KITLG, VCAM1, MTHFR, MPO, CD79A, CD40LG
38	hepatitis b	25.5	MBL2, CCR5, GPT, IFNG, F2, ALB
39	cholangiocarcinoma	25.2	SELE, SELL, BMP6, PBLD, MTHFR, GPT
40	hypertriglyceridemia	25.1	SELE, SELP, VCAM1, LDLR, GPT, GP1BA
41	gaucher's disease	25.1	LDLR, MTHFR, GUSB, MBL2, F5, F2
42	prion disease	24.9	SELP, BLM, CLU, FTH1, FTL, CD79A
43	rabies	24.8	ITGB3, IL13, IL4R, IL8, IFNG, ALB
44	hyperparathyroidism	24.8	KITLG, VWF, SELE, IL3, IL4R, GPT
45	cerebrovascular disease	24.7	VWF, SELE, SELL, SELP, VCAM1, LDLR
46	bipolar disorder	24.6	VWF, MTHFR, IGF1, ICAM1, HLA-A, HLA-DQB1
47	hemochromatosis	24.5	BMP6, UGT1A1, MPO, FTH1, FTL, GPT
48	lactic acidosis	24.4	GPT, IGF1, F2, ALB, TNF, SLC17A5
49	proteinuria	24.2	VWF, SELL, SELP, VCAM1, BMP6, CLU
50	atopic dermatitis	23.8	KITLG, SELE, SELL, SELP, VCAM1, IL13

Clinical features from OMIM: 603903

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 phenylbutyrate sodium

Cell-based therapeutics:

Hematopoietic progenitor cells, PMIDs: 18063756

Genetic tests related to sickle cell anemia:

id	Genetic test	Affiliating Genes
1	Sickle Cell Anemia clinical/research	HBB, HBD

MalaCards organs/tissues related to sickle cell anemia:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Blood -> Peripheral Blood -> Erythrocytes	Affected by disease

MGI Mouse Phenotypes related to sickle cell anemia:

²⁵ (show all 24)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.3	PGF, ITGB3, BMPR1A, SELP, SELL, KLF2
2	renal/urinary system phenotype	MP:0005367	10.0	TKT, HBB, ACTN4, NOS3, GLA, CFB
3	embryogenesis phenotype	MP:0005380	9.6	CSF2, G6PD, ALPP, F2, BLM, MYB
4	hematopoietic system phenotype	MP:0005397	9.6	ITGA2, FTH1, KCNN4, BCL11A, BLM, BMPR1A
5	liver/biliary system phenotype	MP:0005370	9.5	EPO, PEX7, HBB, NOS3, SMAD3, GLA
6	other phenotype	MP:0005395	9.3	HBB, NOS3, IL13, ITGB3, CD40LG, LDLR
7	endocrine/exocrine gland phenotype	MP:0005379	9.3	GGT1, PEX7, TKT, IFNG, GUSB, CD40LG
8	no phenotypic analysis	MP:0003012	8.9	ADRB2, HBE1, ACTN1, CCR5, IL13, CD79A
9	reproductive system phenotype	MP:0005389	8.6	BMPR1A, ITGA2B, GUSB, MEFV, IL13, FABP9
10	skeleton phenotype	MP:0005390	8.1	IGF1R, MEFV, ITGB3, CFB, MTHFR, BMPR1A
11	nervous system phenotype	MP:0003631	8.1	F2, HLA-DQB1, SMAD3, EDN1, G6PD, HBB
12	digestive/alimentary phenotype	MP:0005381	8.0	F2, SMAD3, PLAT, NOS3, EDN1, TOX
13	integument phenotype	MP:0010771	7.6	IL4R, IGF1R, IFNG, F5, F2, HBA2
14	vision/eye phenotype	MP:0005391	7.2	TNF, SMAD3, PLAT, NOS3, TKT, SLC17A5
15	immune system phenotype	MP:0005387	7.0	HBB, PLAT, DARC, TNF, HLA-DQB1, F2
16	adipose tissue phenotype	MP:0005375	6.9	ADRB2, PGF, SLC12A2, CSF2, TKT, ACE
17	normal phenotype	MP:0002873	6.7	IGF1, IFNG, F2, ALB, ALPP, HLA-DQB1
18	growth/size phenotype	MP:0005378	6.7	ACE, NOS3, PLAT, SMAD3, ALPP, IGF1R
19	muscle phenotype	MP:0005369	6.6	PLAT, SMAD6, TNF, HLA-DQB1, NOS3, EDN1
20	tumorigenesis	MP:0002006	6.3	IFNG, ICAM1, TNF, SMAD3, ACE, CSF2
21	mortality/aging	MP:0010768	5.4	TKT, HBA2, HBA1, G6PD, ACTN4, ACE
22	cardiovascular system phenotype	MP:0005385	3.5	SLC12A2, CSF2, TGFBR3, TKT, HBB, G6PD
23	cellular phenotype	MP:0005384	3.3	HBA2, IL4R, IL3, IL13, MEFV, GUSB
24	homeostasis/metabolism phenotype	MP:0005376	3.0	G6PD, ACTN4, EDN1, PF4, NOS3, PLAT

Articles related to sickle cell anemia:

(show top 50)    (show all 88)

id	Title	Authors	Year	Affiliating Genes
1	Inhibition of phosphodiesterase 9A reduces cytokine-s timulated in vitro adhesion of neutrophils from sickle cell anemia individuals. (21336703)	Miguel L.I.... Conran N.	2011	PDE9A
2	Fetal hemoglobin in sickle cell anemia. (21490337)	Akinsheye I.... Steinberg M.H.	2011	HPFH2, HPFH
3	Absence of association between TNF-I+ polymorphism and cerebral large-vessel abnormalities in adults with sickle cell anemia. (21160173)	Vicari P.... Figueiredo M.S.	2011	TNF
4	Alpha-thalassemia is associated with a decreased occu rrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients . (20598923)	Nebor D.... Romana M.	2010	HBA1, HBB
5	I^-globin gene cluster haplotypes in a cohort of 221 c hildren with sickle cell anemia or SI^a8^-thalassemia and their association with c linical and hematological features. (20938172)	BelisA!rio A.R.... Viana M.B.	2010	HBB
6	Promoter region sequence differences in the A and G g amma globin genes of Brazilian sickle cell anemia patients. (20602015)	Barbosa C.G.... Goncalves M.S.	2010	HBG2, HBG1
7	Fetal hemoglobin in sickle cell anemia: genome-wide a ssociation studies suggest a regulatory region in the 5' olfactory receptor gen e cluster. (20018918)	Solovieff N.... Steinberg M.H.	2010	BCL11A, OR51B5, OR51B6
8	Hydroxyurea-induced expression of glutathione peroxid ase 1 in red blood cells of individuals with sickle cell anemia. (19951064)	Cho C.S.... Rhee S.G.	2010	GPX1
9	Proinflammatory phenotype with imbalance of KLF2 and RelA: risk of childhood stroke with sickle cell anemia. (19957349)	Enenstein J.... Hebbel R.P.	2010	RELA, RFX1, KLF2
10	Arginase levels and their association with Th17-relat ed cytokines, soluble adhesion molecules (sICAM-1 and sVCAM-1) and hemolysis ma rkers among steady-state sickle cell anemia patients. (20405289)	Vilas-Boas W.... Goncalves M.S.	2010	ICAM1, VCAM1
11	Association of the MBL2 gene EXON1 polymorphism and v asoocclusive crisis in patients with sickle cell anemia. (19468207)	Oliveira M.C.... Cavalcanti M.S.	2009	MBL2
12	HLA DRB1*130101-DQB1*060101 haplotype is associated with acute chest syndrome in sickle cell anemia patients. (19254255)	Mahdi N.... Almawi W.Y.	2009	HLA-DQB1, HLA-DRB1
13	Sickle cell anemia in northern Israel: screening and prevention. (19603597)	Koren A.... Filon D.	2009	HBB
14	Sequence change in the HS2-LCR and Ggamma-globin gene promoter region of sickle cell anemia patients. (18235968)	Adorno E.V.... Goncalves M.S.	2008	HBB
15	G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. (18772456)	Bernaudin F.... Delacourt C.	2008	G6PD, HBA1, HBB
16	Heamostatic and genetic predisposing factors for stro ke in children with sickle cell anemia. (20306667)	Mourad H.... Rowisha M.	2008	ACE, PECAM1
17	Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia. (18312480)	Al-Ola K.... Almawi W.Y.	2008	HLA-DQB1, HLA-DRB1
18	Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. (17918249)	Sebastiani P.... Steinberg M.H.	2008	HBB, GPM6B, TOX
19	Short stature in children with sickle cell anemia correlates with alterations in the IGF-I axis. (17396438)	Collett-Solberg P.F.... Ware R.E.	2007	IGF1, IGFBP3
20	Cytokine concentrations in bone marrow of stable sickle cell anemia patients. (17362693)	Dallalio G.... Means R.T.	2007	PGF, EPO
21	HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia. (17961774)	Tamouza R.... Charron D.	2007	HLA-E
22	Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia. (17600229)	Hoppe C.... Styles L.	2007	TNF, ADRB2, IL4R
23	A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference. (16378095)	Samakoglu S.... Sadelain M.	2006	HBG1
24	Renal amyloidosis in a child with sickle cell anemia. (16570202)	SimA9ek B.... Kilinc Y.	2006	MEFV
25	Hyperhemolysis during the evolution of uncomplicated acute painful episodes in patients with sickle cell anemia. (16398738)	Ballas S.K.... Marcolina M.J.	2006	SLC17A5
26	ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia. (16956834)	Chaar V.... Romana M.	2006	NOS3, EDN1
27	Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia. (15710570)	Chaar V.... Romana M.	2005	UGT1A1
28	Association of the G-463A myeloperoxidase polymorphism with infection in sickle cell anemia. (15996936)	Costa R.N.... Costa F.F.	2005	MPO
29	Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. (15040424)	Wyszynski D.F.... Steinberg M.H.	2004	PEX7
30	Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya. (15153712)	Keser I.... Luleci G.	2004	HBB
31	The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. (15481897)	Adorno E.V.... Goncalves M.S.	2004	HBB
32	Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia. (15355504)	Castro V.... Costa F.F.	2004	ITGB3, ITGA2, GP1BA
33	High frequency of the CCR5delta32 variant among individuals from an admixed Brazilian population with sickle cell anemia. (12532229)	Chies J.A.... Hutz M.H.	2003	CCR5
34	UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia. (12677174)	Heeney M.M.... Ware R.E.	2003	UGT1A1
35	Enhanced erythrocyte apoptosis in sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency. (12438773)	Lang K.S.... Wieder T.	2002	G6PD
36	Hydroxyurea corrects the dysregulated L-selectin expression and increased H(2)O(2) production of polymorphonuclear neutrophils from patients with sickle cell anemia. (11895759)	Benkerrou M.... Elbim C.	2002	SELL
37	Exercise in sickle cell anemia: effect on inflammatory and vasoactive mediators. (11572476)	Barbeau P.... Gutin B.	2001	EDN1
38	Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. (11878580)	Passon R.G.... Ware R.E.	2001	UGT1A1
39	Antineutrophil cytoplasmic antibodies in patients with sickle cell anemia (10618917)	Villaescusa R.... HernA!ndez P.	1999	PRTN3
40	Levels of endothelial, neutrophil and platelet-specific factors in sickle cell anemia patients during hydroxyurea therapy. (10473885)	Saleh A.W.... Duits A.J.	1999	IL8
41	Venous thromboembolism, factor V Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient. (10505325)	Koren A.... Shalev S.	1999	F5, MTHFR
42	Elevated plasma endothelin-1 levels in sickle cell anemia: relationships to oxygen saturation and left ventricular hypertrophy. (9662270)	Werdehoff S.G.... Hackman A.M.	1998	EDN1
43	Increased levels of endothelin-1 in plasma of sickle cell anemia patients. (9746804)	Rybicki A.C.... Benjamin L.J.	1998	EDN1
44	Circulating activated endothelial cells in sickle cell anemia. (9371854)	Solovey A.... Hebbel R.P.	1997	SELP, SELE
45	CD36-positive stress reticulocytosis in sickle cell anemia. (8656036)	Browne P.V.... Hebbel R.P.	1996	ADAMTSL1
46	Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria. (7770645)	Yazzie D.... Glew R.H.	1995	GUSB, GLA
47	Study of platelet function in patients with sickle cell anemia during steady state and vaso-occlusive crisis. (8212998)	Papadimitriou C.A.... Lali P.	1993	PF4
48	Hydroxyurea and erythropoietin therapy in sickle cell anemia. (1379376)	Goldberg M.A.... Bunn H.F.	1992	EPO
49	Increased response of erythroid progenitors to interleukin-3 in sickle cell anemia: CFU-E-like behavior of circulating erythroid progenitors in liquid culture. (1951299)	Isoyama K.... Mankad V.N.	1991	EPO
50	Hemoglobin Memphis/S. A new variant of sickle cell anemia. (6082248)	Kraus A.P.... Kraus L.M.	1967	HBA1

Genes related to sickle cell anemia according to GeneCards:

(show top 50)    (show all 105)

id	Symbol	Description	Score	GeneCards Section Context
1	HBB	hemoglobin, beta	11.1	Publications, Summaries
2	HPR	haptoglobin-related protein	11.1	Summaries
3	HPFH2	hereditary persistence of fetal hemoglobin, heterocellular, Indian type	11.0	Publications
4	HPFH	hereditary persistence of fetal hemoglobin, heterocellular	11.0	Publications
5	HBBP1	hemoglobin, beta pseudogene 1	11.0
6	FABP9	fatty acid binding protein 9, testis	11.0
7	OR51B6	olfactory receptor, family 51, subfamily B, member 6	11.0	Publications
8	KLF2	Kruppel-like factor 2 (lung)	11.0	Publications
9	SCAND3	SCAN domain containing 3	11.0
10	HBG1	hemoglobin, gamma A	11.0	Publications
11	OR51B2	olfactory receptor, family 51, subfamily B, member 2	11.0
12	AK2	adenylate kinase 2	11.0	Publications
13	HBE1	hemoglobin, epsilon 1	11.0
14	HAO2	hydroxyacid oxidase 2 (long chain)	11.0
15	DARC	Duffy blood group, chemokine receptor	11.0	Publications
16	HBA1	hemoglobin, alpha 1	11.0	Publications
17	HBD	hemoglobin, delta	11.0
18	HLA-E	major histocompatibility complex, class I, E	11.0	Publications
19	PBLD	phenazine biosynthesis-like protein domain containing	11.0
20	BPGM	2,3-bisphosphoglycerate mutase	11.0
21	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
22	KCNN4	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	11.0
23	NFS1	NFS1 nitrogen fixation 1 homolog (S. cerevisiae)	11.0
24	FTL	ferritin, light polypeptide	11.0
25	GP1BA	glycoprotein Ib (platelet), alpha polypeptide	11.0	Publications
26	BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	11.0	Publications
27	FTH1	ferritin, heavy polypeptide 1	11.0
28	CFB	complement factor B	11.0
29	HBG2	hemoglobin, gamma G	11.0	Publications
30	HBS1L	HBS1-like (S. cerevisiae)	11.0	Publications
31	MEFV	Mediterranean fever	11.0	Publications
32	MYB	v-myb myeloblastosis viral oncogene homolog (avian)	11.0	Publications
33	ITGA2B	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	11.0	Publications
34	RBM17	RNA binding motif protein 17	11.0	Functions
35	PF4	platelet factor 4	11.0	Publications
36	PGF	placental growth factor	11.0	Publications
37	PEX7	peroxisomal biogenesis factor 7	11.0	Publications
38	PECAM1	platelet/endothelial cell adhesion molecule 1	11.0	Publications
39	PDE9A	phosphodiesterase 9A	11.0	Publications
40	IL4R	interleukin 4 receptor	11.0	Publications
41	PRTN3	proteinase 3	11.0	Publications
42	RFX1	regulatory factor X, 1 (influences HLA class II expression)	11.0	Publications
43	ACTN4	actinin, alpha 4	11.0	Publications
44	SMAD6	SMAD family member 6	11.0	Publications
45	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
46	CLU	clusterin	11.0	Publications
47	GLA	galactosidase, alpha	11.0	Publications
48	GPX1	glutathione peroxidase 1	11.0	Publications
49	GPM6B	glycoprotein M6B	11.0	Publications
50	ACTN1	actinin, alpha 1	11.0	Publications

Pathways related to sickle cell anemia according to GeneDecks:

(show top 50)    (show all 80)

id	Pathway	Score	Top Affiliating Genes
1	Graft-versus-host disease20	10.7	HLA-A, HLA-E
2	Cell adhesion molecules (CAMs)20	10.7	SELL, SELP, HLA-E, PECAM1
3	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	10.3	ITGA2, ITGB3, PECAM1, ACTN4, ACTN1
4	Focal adhesion20	10.3	VWF, ITGA2B, ITGB3, ACTN1, ACTN4, ITGA2
5	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	10.3	PECAM1, ACTN4, ACTN1, ITGB3, ITGA2
6	Amoebiasis20	10.1	RELA, CSF2, IL8, ACTN1, ACTN4
7	Glioma Invasiveness36	10.1	PGF, ITGA2B, KITLG, BMP6, IL3
8	Actin-Based Motility by Rho Family GTPases36	10.0	PGF, IGF1, ITGA2B
9	PTEN Pathway36	9.9	KITLG, ITGA2, IGF1R, TGFBR3, ITGA2B, PGF
10	Staphylococcus aureus infection20	9.8	MBL2, CFB, ICAM1, HLA-DRB1, SELP, HLA-DQB1
11	Phagosome20	9.7	HLA-DRB1, HLA-DQB1, HLA-E, MPO, HLA-A, MBL2
12	Endothelin-1 Signaling Pathway36	9.7	BMP6, IL13, IL3, IGF1R, PF4, EDN1
13	Antigen processing and presentation20	9.7	HLA-DQB1, HLA-DRB1, HLA-E
14	Blood Coagulation Signaling Pathways37	9.6	VWF, GP1BA, F5, PLAT, F2
15	Viral myocarditis20	9.6	HLA-E, HLA-DRB1, HLA-DQB1, HLA-A, ICAM1, CD40LG
16	Complement and coagulation cascades20	9.5	F2, F5, PLAT, MBL2, VWF, CFB
17	ERK Signaling36	9.5	IL13, ITGA2B, BMP6, KITLG, IGF1R, PGF
18	CDC42 Pathway36	9.5	HLA-DQB1, IGF1R, ITGB3, HLA-E, ITGA2B, ITGA2
19	LDL Oxidation in Atherogenesis36	9.5	ICAM1, TNF, VCAM1, MPO
20	Sertoli-Sertoli Cell Junction Dynamics36	9.5	TGFBR3, ACTN4, ACTN1, NOS3, ITGB3, ITGA2B
21	Akt Signaling36	9.5	PF4, BMPR1A, ITGA2, ITGA2B, IL4R, CCR5
22	Molecular Mechanisms of Cancer36	9.4	BMPR1A, IL3, IL13, ITGA2B, ITGA2, BMP6
23	Asthma20	9.4	IL3, HLA-DQB1, TNF, IL13, CD40LG, HLA-DRB1
24	African trypanosomiasis20	9.3	HBA2, TNF, HBA1, HBB, HBD, ICAM1
25	Hematopoietic cell lineage20	9.2	HLA-DRB1, ITGA2, ITGA2B, GP1BA, ITGB3, IL3
26	Type I diabetes mellitus20	9.2	HLA-E, IFNG, HLA-A, TNF, HLA-DQB1, HLA-DRB1
27	THC Differentiation Pathway36	9.2	IFNG, TNF, HLA-DRB1, HLA-DQB1, IL4R
28	PEDF Induced Signaling36	9.1	CSF2, PF4, TNF, IL8, IL3, IL13
29	Cytokine Network36	9.1	IL3, IL8, IFNG, IL13, TNF
30	Immune response MIF-mediated glucocorticoid regulation10	9.1	TNF, ICAM1, IFNG, IL8, VCAM1, RELA
31	Allograft rejection20	9.1	IFNG, CD40LG, HLA-A, HLA-DQB1, HLA-DRB1, HLA-E
32	Immune response_MIF-mediated glucocorticoid regulation41	9.1	IFNG, TNF, ICAM1, IL8, VCAM1, RELA
33	STAT3 Pathway36	9.0	PF4, TNF, CCR5, IL8, IL4R, IL13
34	Paxillin Interactions36	9.0	ITGA2B, KITLG, IL3, IGF1, PGF, ITGB3
35	MIF Mediated Glucocorticoid Regulation36	8.9	BMP6, CSF2, PF4, IL8, TNF, IL13
36	Rac1 Pathway36	8.8	ITGB3, IGF1R, IGF1, TGFBR3, PGF, IL3
37	Toxoplasmosis20	8.7	LDLR, CD40LG, CCR5, IFNG, RELA, HLA-DQB1
38	Malaria20	8.7	CD40LG, TNF, SELE, SELP, VCAM1, HBA2
39	Rheumatoid arthritis20	8.6	PGF, IFNG, HLA-DRB1, IL8, ICAM1, HLA-DQB1
40	p70S6K Signaling36	8.6	IL4R, KITLG, PGF, TGFBR3, HBG2, BMP6
41	PPAR Pathway36	8.5	ITGA2B, ITGB3, IL3, IGF1R, TNF, PGF
42	Apoptotic Pathways in Synovial Fibroblasts36	8.4	IL3, KITLG, TGFBR3, IGF1R, IGF1, TNF
43	Cytokine-cytokine receptor interaction20	8.3	IL13, PF4, TNF, IFNG, CCR5, IL4R
44	Rho Family GTPases36	8.2	PF4, IL8, IL3, IL13, ITGB3, ITGA2B
45	Renin-Angiotensin Pathway36	8.0	IL3, IGF1, BMP6, VCAM1, PGF, TGFBR3
46	PAK Pathway36	7.8	BMP6, IGF1, PGF, CSF2, TGFBR3, PF4
47	Tec Kinases Signaling36	7.7	IGF1R, PGF, TNF, IGF1, ITGA2B, CCR5
48	p38 Signaling36	7.6	IL4R, KITLG, PGF, CSF2, PF4, IL13
49	Antioxidant Action of Vitamin-C36	7.6	IL13, KITLG, BMP6, TNF, TGFBR3, PGF
50	JAK-STAT Pathway36	7.5	BMP6, IL3, IL13, KITLG, EPO, PGF

Compounds related to sickle cell anemia according to GeneDecks:

(show top 50)    (show all 392)

id	Compound	Score	Top Affiliating Genes
1	hirudin32	10.1	SELL, GP1BA, F5, PF4, ADAMTSL1
2	polyethylene glycol32	9.8	KITLG, SELE, MPO, ALPP, PF4, G6PD
3	pge232	9.6	SELE, VCAM1, LDLR, IL13, IGF1R, PF4
4	tirofiban32 9 9	11.2	VWF, SELP, CD40LG, ITGA2, ITGA2B, ITGB3
5	sele32	9.1	SELL, SELP, LDLR, MTHFR, ITGB3, ACE
6	ascorbic acid32 18	10.1	LDLR, FTH1, CD40LG, IL3, IGF1R, IGFBP3
7	oxygen32 18	9.8	KITLG, BPGM, MYB, CLU, MPO, FTH1
8	hyaluronic acid32 18	9.8	BMP6, IL13, GPT, IGF1R, F2, PRTN3
9	epinephrine32 9 18 9	11.6	KITLG, SELE, SELL, SELP, BMP6, CD79A
10	aspartate32	8.5	SELP, BMP6, LDLR, CD40LG, GUSB, MBL2
11	glutamate32	8.5	BMP6, CLU, LDLR, MTHFR, CD79A, ITGA2
12	heparin32 9 18 9	11.4	KITLG, VWF, MPO, CD79A, IL3, F2
13	testosterone32 9 18 9	11.2	RELA, KITLG, SELE, VCAM1, CLU, UGT1A1
14	fibrinogen32	8.0	SELE, SELP, VCAM1, CLU, CD79A, CD40LG
15	adenylate32	7.9	KITLG, VWF, SELE, SELP, VCAM1, MYB
16	h2o232	7.9	KITLG, VWF, SELL, MYB, CLU, LDLR
17	estrogen32	7.8	VWF, CLU, UGT1A1, MTHFR, ITGB3, GPX1
18	mycophenolate mofetil32 9 9	9.8	SELE, SELP, UGT1A1, CD79A, CD40LG, IL3
19	dextran sulfate32	7.6	SELE, SELL, SELP, LDLR, MPO, CD40LG
20	folate32	7.6	VWF, SELE, VCAM1, CLU, LDLR, MTHFR
21	cysteine32	7.6	SELP, MYB, CLU, LDLR, MTHFR, CD79A
22	cyclosporin a32 42	8.5	KITLG, VWF, SELP, MYB, LDLR, MTHFR
23	thyroxine32 18	8.3	VWF, UGT1A1, LDLR, CD79A, CD40LG, IL13
24	atorvastatin32 34 9 18 9	11.3	VWF, SELE, SELL, SELP, VCAM1, BMP6
25	vitamin b1232	7.2	VWF, MTHFR, MPO, CD79A, CD40LG, GUSB
26	butyrate32	7.1	KITLG, MYB, BMP6, CLU, MPO, ITGA2
27	tamoxifen32 34 9 9	10.1	SELE, VCAM1, BMP6, CLU, UGT1A1, LDLR
28	prostacyclin32	7.1	VWF, SELE, SELP, VCAM1, BMP6, LDLR
29	prednisolone32 9 9	9.0	KITLG, VWF, SELL, VCAM1, BMP6, MPO
30	polysaccharide32	7.0	KITLG, SELE, SELL, SELP, VCAM1, BMP6
31	rantes32	6.8	KITLG, SELE, SELL, SELP, VCAM1, BMP6
32	glutamine32	6.7	VWF, MYB, BMP6, LDLR, IL13, IL3
33	aspirin32 34 18	8.6	KITLG, VWF, SELE, SELL, SELP, BMP6
34	vitamin d32	6.5	BMP6, CLU, LDLR, MTHFR, CD79A, ITGB3
35	simvastatin32 34 42 9 18 9	11.2	KITLG, VWF, SELE, SELL, SELP, VCAM1
36	thymidine32 18	7.2	KITLG, MYB, BMP6, CLU, KCNN4, UGT1A1
37	vegf32	6.1	KITLG, VWF, SELE, SELP, VCAM1, CLU
38	genistein32 9 18 9	8.9	KITLG, SELE, SELL, SELP, VCAM1, UGT1A1
39	actinomycin d32	5.9	KITLG, SELE, MYB, CLU, LDLR, CD40LG
40	creatinine32	5.9	KITLG, VWF, SELE, SELL, SELP, BMP6
41	histamine32 18	6.8	KITLG, VWF, SELE, SELL, SELP, VCAM1
42	cholesterol32 9 18 9	8.7	KITLG, VWF, SELE, SELP, VCAM1, CLU
43	tyrosine32	5.6	KITLG, VWF, SELL, SELP, VCAM1, MYB
44	cycloheximide32	5.5	KITLG, SELE, SELL, MYB, BMP6, CLU
45	nitric oxide32 9 18 9	8.4	KLF2, KITLG, VWF, SELE, SELP, VCAM1
46	alanine32	5.2	KITLG, VWF, SELE, SELL, VCAM1, MYB
47	dexamethasone32 42 34 9 9	8.9	KITLG, VWF, SELL, SELP, VCAM1, MYB
48	lactate32	4.4	KITLG, VWF, SELE, SELL, SELP, VCAM1
49	retinoic acid32 42 18	6.1	RFX1, KITLG, VWF, SELL, SELP, VCAM1
50	serine32	4.0	RELA, KITLG, VWF, SELE, SELL, VCAM1

Cellular components related to sickle cell anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin complex	GO:005833	10.5	HBG2, HBG1, HBE1, HBD, HBB, HBA2
2	platelet alpha granule membrane	GO:031092	9.9	PECAM1, ITGB3, ITGA2B, SELP
3	integral to lumenal side of endoplasmic reticulum membrane	GO:071556	9.9	HLA-A, HLA-DQB1, HLA-DRB1, HLA-E
4	platelet alpha granule lumen	GO:031093	8.3	ACTN4, ACTN1, PF4, ALB, F5, IGF1
5	integral to plasma membrane	GO:005887	7.4	IGF1R, ICAM1, HLA-A, HLA-DRB1, TNF, TGFBR3
6	external side of plasma membrane	GO:009897	7.0	TGFBR3, VCAM1, SELP, SELL, VWF, LDLR
7	extracellular region	GO:005576	5.6	F2, ALB, GLA, PLAT, PF4, EDN1
8	plasma membrane	GO:005886	5.2	SMAD3, DARC, TNF, HLA-E, HLA-DRB1, HLA-DQB1
9	extracellular space	GO:005615	3.8	EPO, PECAM1, PGF, CSF2, TGFBR3, ACE

Biological processes related to sickle cell anemia according to GeneDecks:

(show all 27)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cellular component movement	GO:051271	10.3	TGFBR3, ACTN4, ACTN1
2	hydrogen peroxide catabolic process	GO:042744	10.2	HBB, HBA2, GPX1, MPO
3	positive regulation of bone mineralization	GO:030501	10.2	ADRB2, SMAD3, GPM6B, BMPR1A, BMP6
4	leukocyte cell-cell adhesion	GO:007159	10.0	ICAM1, CD40LG, VCAM1, SELP, SELE
5	leukocyte tethering or rolling	GO:050901	10.0	TNF, VCAM1, SELP, SELE
6	cellular response to interleukin-1	GO:071347	9.9	EDN1, ICAM1, IL8, RELA, KLF2
7	cellular response to tumor necrosis factor	GO:071356	9.8	KLF2, RELA, IL8, ICAM1, EDN1
8	regulation of immune response	GO:050776	9.8	SMAD3, HLA-E, HLA-A, ICAM1, CD40LG, VCAM1
9	response to lipopolysaccharide	GO:032496	9.8	SELE, SELP, UGT1A1, IL13, EDN1, EPO
10	heterophilic cell-cell adhesion	GO:007157	9.7	SELE, SELP, VCAM1, ICAM1
11	calcium-mediated signaling	GO:019722	9.5	EDN1, TNF, CCR5, IL8, SELE
12	response to hypoxia	GO:001666	9.4	PGF, TGFBR3, ACTN4, EDN1, NOS3, PLAT
13	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	9.4	EPO, CSF2, IGF1, IL3
14	positive regulation of nitric oxide biosynthetic process	GO:045429	9.3	HBB, EDN1, TNF, ICAM1, IFNG
15	interferon-gamma-mediated signaling pathway	GO:060333	9.3	HLA-E, HLA-DRB1, HLA-DQB1, HLA-A, ICAM1, IFNG
16	leukocyte migration	GO:050900	9.2	PECAM1, F2, ICAM1, ITGB3, SELP, SELL
17	cell adhesion	GO:007155	9.0	ITGB3, GP1BA, F5, ICAM1, PECAM1, ITGA2B
18	cytokine-mediated signaling pathway	GO:019221	9.0	PF4, HLA-E, HLA-DRB1, HLA-DQB1, HLA-A, ICAM1
19	positive regulation of DNA replication	GO:045740	9.0	EPO, CSF2, IGF1, IGF1R, IL3, KITLG
20	inflammatory response	GO:006954	8.9	DARC, TNF, CCR5, IL8, IL13, MEFV
21	negative regulation of apoptotic process	GO:043066	8.6	EPO, CSF2, PF4, SMAD6, SMAD3, TNF
22	platelet degranulation	GO:002576	8.3	ALB, PF4, ACTN1, ACTN4, PECAM1, F5
23	positive regulation of cell proliferation	GO:008284	8.3	EPO, ADRB2, PGF, CSF2, PRTN3, EDN1
24	immune response	GO:006955	8.3	HLA-A, HLA-DQB1, HLA-DRB1, SMAD3, SMAD6, PF4
25	anti-apoptosis	GO:006916	8.1	EPO, NOS3, TNF, IGF1, IGF1R, GPX1
26	platelet activation	GO:030168	7.7	F2, ALB, PF4, ACTN1, ACTN4, PECAM1
27	blood coagulation	GO:007596	7.3	PECAM1, NOS3, PF4, PDE9A, ACTN1, ACTN4

Molecular functions related to sickle cell anemia according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	oxygen transporter activity	GO:005344	10.5	HBG2, HBG1, HBE1, HBD, HBB, HBA2
2	iron ion binding	GO:005506	10.1	HBG2, HBG1, HBE1, HBD, HBB, HBA2
3	oxygen binding	GO:019825	9.9	HBG2, HBG1, HBE1, HBD, HBB, HBA2
4	heme binding	GO:020037	9.8	HBG2, HBG1, HBE1, HBD, HBB, HBA2
5	protein homodimerization activity	GO:042803	9.5	G6PD, TKT, PGF, PEX7, ADRB2, ACTN4
6	integrin binding	GO:005178	8.6	ACTN4, ACTN1, ICAM1, IGF1, VCAM1, VWF
7	growth factor activity	GO:008083	8.5	CSF2, F2, IGF1, IL3, BMP6, KITLG
8	cytokine activity	GO:005125	8.2	CSF2, EDN1, TNF, IFNG, IL3, IL13
9	protein binding	GO:005515	2.6	GGT1, NOS3, PLAT, SMAD6, SMAD3, TNF