Thalassemia malady

MedlinePlus: If you have thalassemia, your body has problems making hemoglobin, the protein in red blood cells that carries oxygen through your body. when your blood does not carry enough oxygen to the rest of your body, you have anemia. thalassemia, a genetic disease, can be mild or severe. some carriers of the gene have no symptoms. the most common severe form in the united states is a type called cooley's anemia. it mainly affects people of mediterranean or asian ancestry. it usually appears during the first two years of life. severe thalassemia is treated with blood transfusions and treatment to remove excess iron in the blood. nih: national heart, lung, and blood institute²³

MalaCards: Thalassemia, also known as thalassemia hb-s disease without crisis, is related to beta thalassemia and alpha thalassemia. An important gene associated with Thalassemia is ATRX (alpha thalassemia/mental retardation syndrome X-linked), and among its related pathways are O2/CO2 exchange in erythrocytes and Factors involved in megakaryocyte development and platelet production. The compounds cyclophosphamide and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and heart, and related mouse phenotypes are renal/urinary system and respiratory system.

Wikipedia: Thalassemia (British English: thalassaemia) are forms of inherited autosomal recessive blood disorders...⁴⁴ more...

Aliases & Descriptions:

thalassemia 6 7 30 17 8 32 23 43 thalassemia hb-s disease without crisis 6 sickle-cell thalassemia without crisis 6 thalassemia hb-s disease with crisis 6

sickle-cell thalassemia with crisis 6 sickle cell-beta-thalassemia 43 thalassemias 7

Disease types for beta thalassemia family:

alpha thalassemia	thalassemia

Diseases related to thalassemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1013)

id	Related Disease	Score	Top Affiliating Genes
1	beta thalassemia	40.7	HBA2, HBB, HFE, TF, TFRC, EPO
2	alpha thalassemia	39.1	UGT1A1, ATRX, DAXX, G6PD, HBA1, HBA2
3	alpha-thalassemia/mental retardation syndrome	33.6	ATRX, ARHGAP26, CREBBP, WT1, HBA2, HBHR
4	hemochromatosis	33.0	B2M, IREB2, HP, ACO1, HFE, HFE2
5	hemoglobinopathy	32.8	KLF1, HP, G6PD, HBA2, HBB, HBG1
6	hemoglobin s beta-thalassemia	32.4	G6PD, HBB, HBD, HBE1, HBG1, HBG2
7	hereditary persistence of fetal hemoglobin	32.3	KLF1, BCL11A, HBB, HBBP1, HBD, HBE1
8	mental retardation syndrome	32.0	ATRX, ARHGAP26, MECP2, CREBBP, WT1, HBA2
9	hepatitis	31.6	GSR, GPT, IFNA1, IFNA2, F2, ALB
10	iron overload	31.5	NAGLU, VDR, BLMH, BCS1L, CHIT1, UGT1A1
11	hypochromic anemia	30.8	HBA1, HBB, TF, TFRC
12	myelodysplastic syndrome	30.5	KIR3DL1, VDR, ATRX, JAK2, GSTM1, GSTT1
13	cholelithiasis	30.2	UGT1A1, INS, GPT, GP1BA, F2, HP
14	hepatitis c	29.6	GSR, GPT, IFNA1, IFNA2, IFNG, F2
15	gilbert syndrome	29.5	SERPINC1, UGT1A, UGT1A1, IGF1, HMOX1, CYP1A2
16	sickle cell anemia	29.3	VWF, SELE, VCAM1, MYB, BLM, BCL11A
17	delayed puberty	29.2	LEP, CGA, IGF1, GNRH1, GH1, SHBG
18	hydrops fetalis	29.2	BLMH, BCS1L, CGA, ALB, SPTA1, SPTB
19	congenital dyserythropoietic anemia	29.0	KLF1, SERPINC1, UGT1A1, HP, RHD, HBB
20	malaria	28.6	IFNG, TNF, SPTB, NOS2, G6PD
21	nephrocalcinosis	28.4	NAGLU, ALB, SPP1, HBA2, HBB, SLC4A1
22	osteosclerosis	28.3	BGLAP, IFNA2, ALPP, TNFRSF11B, TNFSF11, PTH
23	erythrocytosis	28.2	JAK2, IL3, IGFBP3, IGF1, IFNA1, F5
24	crigler-najjar syndrome	28.2	UGT1A1, F2, ALB, ALPP, CYP3A4, G6PD
25	glucose intolerance	27.5	LEP, INS, GPT, IGFBP3, IGF1, GH1
26	panhypopituitarism	27.4	BGLAP, IGF1, ALPP, CALCA, GH1, GHRL
27	iron deficiency anemia	27.4	IREB2, GSR, ALB, CAT, GHRL, TNF
28	turner syndrome	27.3	BGLAP, PAPPA, CGA, CGB, IGFBP3, IGF1
29	hypoparathyroidism	27.2	PIK3C2A, NAGLU, VDR, BGLAP, MTHFR, INS
30	sickle cell disease	27.2	KLF1, VWF, SELE, VCAM1, MYB, BGLAP
31	thrombophilia	26.9	VWF, SELE, SERPINC1, MTHFR, JAK2, APOH
32	osteoporosis	26.8	SELE, SERPINC1, VDR, BGLAP, LEP, MTHFR
33	short stature	26.8	VDR, BGLAP, LEP, ATRX, INS, IGFBP3
34	periodontitis	25.4	VDR, IL1B, IL6, TNF, TNFRSF11B, TNFSF11
35	hypogonadism	25.2	SERPINC1, VDR, BGLAP, LEP, CGA, ATRX
36	familial hypercholesterolemia	24.9	SELE, VCAM1, MTHFR, INS, IL1B, IL6
37	anemia	24.8	KLF1, VWF, SELE, SERPINC1, NAGLU, VDR
38	familial mediterranean fever	24.8	KIR3DL1, SERPINC1, LEP, B2M, GSN, MEFV
39	jaundice	24.4	UGT1A, UGT1A1, GSR, GSTM1, GSTT1, IL1B
40	fanconi's anemia	24.1	BLM, INS, GSR, IL3, IL6, IGFBP3
41	hematopoiesis	22.6	MYB, ZFPM1, BCL11A, LEP, LCN2, JAK2
42	thrombocytopenia	22.4	PIK3C2A, KLF1, VWF, SELE, SERPINC1, MYB
43	hypercholesterolemia	21.6	PIK3C2A, VWF, SELE, VCAM1, PAPPA, LEP
44	blindness	21.0	PIK3C2A, VWF, SELE, SERPINC1, VDR, BGLAP
45	nephrotic syndrome	20.9	PIK3C2A, VWF, SELE, SERPINC1, NAGLU, ZHX2
46	thrombosis	20.5	PIK3C2A, VWF, SELE, SERPINC1, VCAM1, BGLAP
47	gingivitis	20.1	SELE, VCAM1, BGLAP, B2M, CD151, ITGB1
48	schizophrenia	20.1	SELE, VDR, PALLD, LEP, UGT1A1, MTHFR
49	insulin resistance	19.3	KLF11, VWF, SELE, NAGLU, VDR, VCAM1
50	nephropathy	18.8	VWF, SELE, NAGLU, VDR, VCAM1, PAPPA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to thalassemia:

²²

MGI Mouse Phenotypes related to thalassemia:

²⁵ (show all 27)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	10.4	KLF1, NAGLU, CFB, CD151, ITGB1, INS
2	respiratory system phenotype	MP:0005388	10.1	GSN, MECP2, ENTPD1, CALCA, TPH1, TNNI3
3	endocrine/exocrine gland phenotype	MP:0005379	10.0	GSN, MECP2, IFNG, GNRH1, GHRH, PTH
4	limbs/digits/tail phenotype	MP:0005371	9.8	VDR, BLMH, LEP, MTHFR, ITGB1, HSPG2
5	hematopoietic system phenotype	MP:0005397	9.8	KLF1, BLM, ZFPM1, BCL11A, LCN2, FTH1
6	embryogenesis phenotype	MP:0005380	9.8	KLF1, SERPINC1, MYB, BLM, ZFPM1, PALLD
7	no phenotypic analysis	MP:0003012	9.7	VCAM1, BLM, BCL11A, MTHFR, CD4, FOXP3
8	craniofacial phenotype	MP:0005382	9.6	NAGLU, ITGA4, FOXP3, MECP2, HSPG2, PTH
9	hearing/vestibular/ear phenotype	MP:0005377	9.4	NAGLU, VDR, CD151, ITGB1, FOXP3, IREB2
10	nervous system phenotype	MP:0003631	9.2	VWF, SERPINC1, NAGLU, BCL11A, MTHFR, CGA
11	integument phenotype	MP:0010771	8.8	KLF1, MYB, BLM, BLMH, ZFPM1, CD4
12	normal phenotype	MP:0002873	8.7	KLF11, SELE, MYB, BLM, ZFPM1, CFB
13	skeleton phenotype	MP:0005390	8.7	NAGLU, VDR, LEP, MTHFR, CFB, JAK2
14	liver/biliary system phenotype	MP:0005370	8.3	KLF1, SERPINC1, MYB, ZFPM1, FTH1, IREB2
15	adipose tissue phenotype	MP:0005375	8.2	PIK3C2A, LEP, INS, MECP2, IL6, IGFBP3
16	reproductive system phenotype	MP:0005389	8.1	VDR, LEP, B2M, CGA, ATRX, ITGB1
17	digestive/alimentary phenotype	MP:0005381	7.9	VWF, VDR, LEP, B2M, CD4, ITGB1
18	immune system phenotype	MP:0005387	7.6	KLF1, VWF, NAGLU, VDR, MYB, BLMH
19	muscle phenotype	MP:0005369	7.2	CKM, LEP, ITGB1, IL6, ENTPD1, IGFBP3
20	vision/eye phenotype	MP:0005391	7.1	SELE, SERPINC1, NAGLU, LEP, MTHFR, ATRX
21	growth/size phenotype	MP:0005378	7.1	PIK3C2A, SELE, NAGLU, VDR, VCAM1, MYB
22	tumorigenesis	MP:0002006	7.0	KLF11, BLM, LEP, B2M, JAK2, CD151
23	behavior/neurological phenotype	MP:0005386	6.8	SELE, NAGLU, BLMH, LEP, ATRX, ITGB1
24	homeostasis/metabolism phenotype	MP:0005376	6.3	PIK3C2A, KLF1, VWF, SELE, SERPINC1, VDR
25	cardiovascular system phenotype	MP:0005385	5.6	VWF, SELE, SERPINC1, NAGLU, VDR, VCAM1
26	mortality/aging	MP:0010768	5.6	PIK3C2A, KLF1, VWF, SELE, SERPINC1, NAGLU
27	cellular phenotype	MP:0005384	5.4	VWF, SELE, NAGLU, VDR, VCAM1, MYB

Articles related to thalassemia:

(show top 50)    (show all 636)

id	Title	Authors	Year	Affiliating Genes
1	Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for be ta-globin mutations. (21232998)	Neishabury M.... Najmabadi H.	2011	HBB
2	Molecular basis of I^-thalassemia in the western provi nce of Saudi Arabia: identification of rare I^-thalassemia mutations. (21797702)	Abuzenadah A.M.... Al-Qahtani M.H.	2011	HBB
3	Assessment of coagulation state and its related facto rs in thalassemia intermedia patients referred to thalassemia research center a t Booali Sina Hospital Sari/IR Iran in 2007. (20973399)	Karami H.... Hashemi M.B.	2010	F5
4	Frequency of positive XmnIGgamma polymorphism and coi nheritance of common alpha thalassemia mutations do not show statistically sign ificant difference between thalassemia major and intermedia cases with homozygo us IVSII-1 mutation. (19892574)	Neishabury M.... Najmabadi H.	2010	HBG2
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	The role of Treg cells and FoxP3 expression in immuni ty of I^-thalassemia major AND I^-thalassemia trait patients. (20677925)	Bozdogan G.... Yildirmak Y.	2010	FOXP3
7	Differences in response to fetal hemoglobin induction therapy in beta-thalassemia and sickle cell disease. (19346141)	Fathallah H.... Atweh G.F.	2009	HBA2, HBG1
8	Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia. (19794088)	Sollaino M.C.... Galanello R.	2009	HBA2
9	Alpha globin gene numbers: an important modifier of H bE/beta thalassemia. (19843387)	Sharma V.... Saxena R.	2009	HBA1, HBB, HBA2
10	Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients. (19215610)	Ricchi P.... Prossomariti L.	2009	HBA1, HBB
11	Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. (18951049)	Nuntakarn L.... Wiangnon S.	2009	HBB, HBG2
12	Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family. (19205978)	Haghi M.... Feizi M.A.	2009	HBB
13	TNFA locus is associated with beta degrees 39 thalassemia in Corsica and Sardinia. (19103526)	Giovannoni L.	2008	TNF, NOS2
14	{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15. (18413893)	Chang J.G.... Liu T.C.	2008	HBB
15	Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong. (18266208)	Gibney G.T.... Chui D.H.	2008	HBG2
16	Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. (18842790)	Zimmermann M.B.... Hurrell R.F.	2008	GDF15
17	THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele. (18473247)	Schmugge M.... Frischknecht H.	2008	HBB
18	Liver iron concentrations and urinary hepcidin in beta-thalassemia. (17488680)	Origa R.... Nemeth E.	2007	TFRC, HAMP
19	Hemostatic alterations in splenectomized and non-sple nectomized patients with beta-thalassemia/hemoglobin E disease. (17382994)	Tripatara A.... Kuaha K.	2007	F2, F5
20	mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. (16755567)	Weizer-Stern O.... Rechavi G.	2006	TFRC, TFR2
21	The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. (16769583)	Kattamis A.... Papanikolaou G.	2006	HAMP
22	Molecular detection of Spanish deltabeta-thalassemia associated with beta-thalassemia identified during prenatal diagnosis. (16480700)	Barragan E.... Sanz M.A.	2006	HBB
23	Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia (16886779)	Bravo-Urquiola M.... Castillo O.	2006	HBB
24	Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis. (15885239)	Chakrabarti P.... Dash D.	2005	HBB
25	Thalassemia intermedia associated with complex interaction of Hb Beijing [alpha16(A14)Lys-->Asn] and Hb E [beta26(B8)Glu-->Lys] with a deletional alpha-thalassemia-1 in a Thai family. (15768559)	Fucharoen S.... Kunyanone N.	2005	HBB
26	Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes (15476181)	Chen J.F.... Chen P.	2004	HBB, HBG2
27	A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. (15352994)	Moi P.... Rosatelli M.C.	2004	KLF1
28	A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a 'synergistic' manner to balance the phenotype of classic thalassemic syndromes. (15003825)	Kanavakis E.... Papassotiriou I.	2004	EPO
29	Effects of thalassemia major on bone mineral density in late adolescence. (12729413)	Benigno V.... Maggio M.C.	2003	PTH
30	Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. (12709368)	Vrettou C.... Kanavakis E.	2003	HBB
31	Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia. (12803121)	Arisal O.... Buyru N.	2002	COL1A1
32	Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele. (12144057)	Karimi M.... Giordano P.C.	2002	HBB
33	Improvement of mouse beta-thalassemia by electrotransfer of erythropoietin cDNA. (11274756)	Payen E.... Scherman D.	2001	EPO
34	Antioxidant defense status of red blood cells of patients with beta-thalassemia and Ebeta-thalassemia. (11249931)	Chakraborty D.... Bhattacharyya M.	2001	SOD1, GSR, CAT
35	Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients. (11860449)	Fucharoen S.... Sanchaisuriya K.	2001	HBB, HBD
36	Study on new techniques for genetic diagnosis of deletional alpha-thalassemia (11877072)	Liu J.... Zhou Y.	2001	HBA1
37	Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism. (11833853)	Bandyopadhyay S.... Dasgupta U.B.	2001	HBA1, HBB
38	Non-anemic homozygous beta(o) thalassemia in an African-American family: association of high fetal hemoglobin levels with beta thalassemia alleles. (11559936)	Divoky V.... Prchal J.T.	2001	HBB, TRIM22
39	Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. (11132230)	Krishnamurti L.	2000	HBB, HBE1
40	Molecular diagnosis in a Korean family with thalassemia intermedia due to co-inheritance of triplicated alpha-globin genes (alphaalpha/alphaalphaalpha(anti 3.7)) and beta-thalassemia trait (IVS-II-1 G-->A) (11876981)	Chen M.... Zeng Y.	2000	HBA2
41	Induction of fetal hemoglobin synthesis with recombinant human erythropoietin in anemic patients with heterozygous beta-thalassemia during pregnancy. (10052837)	Breymann C.... Huch R.	1999	EPO
42	Serum erythropoietin levels in thalassemia major and intermedia. (10928378)	Chaisiripoomkere W.... Ungkanont A.	1999	EPO
43	Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha2, codon 59, GGC-->GAC) or a nondeletional alpha-thalassemia mutation (AATAAA-->AATAAG): comparison of phenotypes illustrating 'dominant' alpha-thalassemia. (10569721)	Traeger-Synodinos J.... Kanavakis E.	1999	HBA2
44	Recombinant human erythropoietin for anaemia in nephrotic syndrome with thalassemia. (9128797)	Ng Y.Y.... Huang T.P.	1997	EPO
45	Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. (8431522)	Kulozik A.E.... Kleihauer E.	1993	HBB
46	A new case of thalassemia intermedia: interaction of a triplicated alpha-globin locus and beta-thalassemia trait. (1634369)	Villegas A.... Sal del Rio E.	1992	HBA2
47	Molecular basis of the delta thalassemia in cis to hemoglobin Knossos variant. (2018846)	Loudianos G.... Loukopoulos D.	1991	HBD
48	Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. (2399911)	Bardakdjian-Michau J.... Galacteros F.	1990	HBB
49	Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression. (7470621)	Honig G.R.... Kirschman C.	1981	HBA1, HBA2
50	Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families. (4646552)	Sukumaran P.K.... Lehmann H.	1972	HBA1

Genes related to thalassemia according to GeneCards:

(show top 50)    (show all 191)

id	Symbol	Description	Score	GeneCards Section Context
1	ATRX	alpha thalassemia/mental retardation syndrome X-linked	11.1	Transcripts, Aliases & Descriptions, Orthologs, Summaries (show all 5 sections) Publications
2	HBB	hemoglobin, beta	11.1	Publications, Summaries
3	HBA2	hemoglobin, alpha 2	11.1	Publications, Summaries
4	HBA1	hemoglobin, alpha 1	11.1	Publications, Summaries
5	HBD	hemoglobin, delta	11.1	Publications, Summaries
6	HBG1	hemoglobin, gamma A	11.1	Summaries, Publications
7	HBG2	hemoglobin, gamma G	11.1	Summaries, Publications
8	HBHR	alpha-thalassemia/mental retardation syndrome, type 1	11.1	Aliases & Descriptions
9	HBS1L	HBS1-like (S. cerevisiae)	11.0	Publications, Summaries
10	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
11	HFE	hemochromatosis	11.0	Publications
12	GATA1	GATA binding protein 1 (globin transcription factor 1)	11.0	Publications
13	EPO	erythropoietin	11.0	Publications
14	TFRC	transferrin receptor (p90, CD71)	11.0	Publications
15	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
16	TF	transferrin	11.0	Publications
17	HBBP1	hemoglobin, beta pseudogene 1	11.0	Publications
18	HBZ	hemoglobin, zeta	11.0	Publications
19	AHSP	alpha hemoglobin stabilizing protein	11.0	Functions, Publications
20	CHIT1	chitinase 1 (chitotriosidase)	11.0	Publications
21	TRIM22	tripartite motif containing 22	11.0	Publications
22	HELLS	helicase, lymphoid-specific	11.0	Publications
23	LCRB	locus control region, beta	11.0	Publications
24	HBE1	hemoglobin, epsilon 1	11.0	Publications
25	GDF15	growth differentiation factor 15	11.0	Publications
26	TFR2	transferrin receptor 2	11.0	Publications
27	KLF1	Kruppel-like factor 1 (erythroid)	11.0	Publications
28	CD151	CD151 molecule (Raph blood group)	11.0
29	DAXX	death-domain associated protein	11.0
30	SPTB	spectrin, beta, erythrocytic	11.0	Publications
31	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	11.0	Publications
32	RHD	Rh blood group, D antigen	11.0
33	SLC4A1	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	11.0	Publications
34	HP	haptoglobin	11.0	Publications
35	TNFSF11	tumor necrosis factor (ligand) superfamily, member 11	11.0	Publications
36	GSR	glutathione reductase	11.0	Publications
37	VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor	11.0	Publications
38	ANXA5	annexin A5	11.0	Publications
39	PON1	paraoxonase 1	11.0	Publications
40	B2M	beta-2-microglobulin	11.0	Publications
41	WT1	Wilms tumor 1	11.0	Publications
42	ARHGAP26	Rho GTPase activating protein 26	11.0	Publications
43	CREBBP	CREB binding protein	11.0	Publications
44	F10	coagulation factor X	11.0	Publications
45	OR52A4	olfactory receptor, family 52, subfamily A, member 4	11.0
46	HBQ1	hemoglobin, theta 1	11.0	Publications
47	KLF11	Kruppel-like factor 11	11.0	Publications
48	OR51B6	olfactory receptor, family 51, subfamily B, member 6	11.0
49	BCS1L	BCS1-like (S. cerevisiae)	11.0
50	SOX8	SRY (sex determining region Y)-box 8	11.0

Pathways related to thalassemia according to GeneDecks:

(show top 50)    (show all 52)

id	Pathway	Score	Top Affiliating Genes
1	O2/CO2 exchange in erythrocytes38	11.0	SLC4A1, HBB, HBA2, HBA1
2	Factors involved in megakaryocyte development and platelet production38	10.9	GATA1, HBG2, HBG1, HBE1, HBD, ZFPM1
3	Graft-versus-host disease20	10.8	HLA-DPB1, HLA-C, KIR3DL1
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	10.8	COL1A1, SPP1, PTH, TNFSF11, BGLAP, VDR
5	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	10.8	COL1A1, SPP1, PTH, TNFSF11, BGLAP, VDR
6	Antigen processing and presentation20	10.7	HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C, CD4, KIR3DL1
7	Naphthalene metabolism41	10.7	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1
8	Naphthalene metabolism10	10.6	CYP2E1, CYP3A4, CYP1A2, GSTT1, GSTM1
9	Cell adhesion molecules (CAMs)20	10.6	HLA-DPB1, ITGB1, ITGA4, CD4
10	Mineral absorption20	10.5	SLC40A1, SLC11A2, TF, HMOX1, FTL, FTH1
11	Autoimmune thyroid disease20	10.4	TPO, HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C, IFNA2
12	Actin-Based Motility by Rho Family GTPases36	10.4	ACTG1, PPBP, GHRH, GH1, IGF1, GSN
13	Blood Coagulation Signaling Pathways37	10.3	F10, F2, F5, GP1BA, SERPINC1, VWF
14	PTEN Pathway36	10.2	PSMC1, ACTG1, COL1A1, PPBP, GHRH, GH1
15	Jak-STAT signaling pathway20	10.2	EPO, CREBBP, TPO, GH1, IFNA2, IFNA1
16	AMPK Enzyme Complex Pathway36	10.1	TFRC, TFR2, HELLS, SMARCA4, SMARCA2, SMARCA1
17	Chromatin Remodeling36	9.9	SMARCA1, SMARCA2, SMARCA4, HELLS
18	Chromatin Regulation / Acetylation3	9.8	DNMT1, HELLS, CREBBP, SMC3, SMARCA4, SMARCA2
19	Metabolic pathways20	9.7	NT5E, PLA2G7, NOS2, PKLR, ACO1, H6PD
20	Allograft rejection20	9.6	TNF, HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C, IFNG
21	p70S6K Signaling36	9.5	GHRH, PPBP, CREBBP, HBG1, HBG2, GH1
22	Molecular Mechanisms of Cancer36	9.5	TNFSF11, CYCS, SPP1, PPBP, COL1A1, SOX8
23	Selected targets of GCR-alpha10	9.4	SLC29A1, CYP3A4, TNFSF11, IL6, IL1B, INS
24	Phospholipase-C Pathway36	9.3	SPP1, PPBP, CREBBP, PLA2G7, RPS6KA3, COL1A1
25	PPAR Pathway36	9.2	CREBBP, PPBP, TNF, GH1, IGF1, IL6
26	Rho Family GTPases36	9.0	CSF3, COL1A1, PPBP, SPP1, TNFSF11, GHRH
27	Cellular Apoptosis Pathway36	9.0	RPS6KA3, PPBP, CYCS, DAXX, TNF, GHRH
28	Type I diabetes mellitus20	8.9	GAD1, TNF, HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C
29	Toxoplasmosis20	8.7	NOS2, CYCS, TNF, HLA-DRB1, HLA-DQB1, HLA-DPB1
30	DHA Signaling36	8.6	GHRH, CYCS, PPBP, PLA2G7, GH1, GNRH1
31	ERK Signaling36	8.5	TNFSF11, SPP1, PPBP, RPS6KA3, COL1A1, CSF3
32	Leishmaniasis20	8.4	NOS2, TNF, HLA-DRB1, HLA-DQB1, HLA-DPB1, IFNG
33	African trypanosomiasis20	8.4	HBD, HBB, HBA2, HBA1, TNF, IFNG
34	NF-KappaB (p50-p65) Pathway36	8.4	CREBBP, PPBP, TNF, GHRH, GH1, GNRH1
35	JAK-STAT Pathway36	8.3	GNRH1, GH1, GHRH, SP1, PPBP, CREBBP
36	Cytokine Network36	8.3	TNF, IFNG, IFNA2, IFNA1, IL6, IL3
37	Immune response_MIF-mediated glucocorticoid regulation41	8.3	IL6, IFNG, TNF, NOS2, VCAM1
38	Immune response MIF-mediated glucocorticoid regulation10	8.2	NOS2, TNF, IFNG, IL6, VCAM1
39	Hematopoietic cell lineage20	8.2	TPO, TNF, TFRC, CSF3, EPO, HLA-DRB1
40	Tec Kinases Signaling36	8.2	GNRH1, GH1, GHRH, TNF, PPBP, ACTG1
41	Rheumatoid arthritis20	8.2	TNFSF11, TNF, HLA-DRB1, HLA-DQB1, HLA-DPB1, IFNG
42	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	8.1	COL1A1, BGLAP, CGA, IL1B, IL6, IGF1
43	Transcription Role of VDR in regulation of genes involved in osteoporosis10	8.1	COL1A1, VDR, BGLAP, CGA, IL1B, IL6
44	Malaria20	7.9	HBA2, HBB, HBD, CSF3, HBA1, TNF
45	NF-KappaB Family Pathway36	7.9	CREBBP, PPBP, TNF, GHRH, GH1, GNRH1
46	Influenza A20	7.7	HLA-DRB1, TNF, CYCS, CREBBP, EIF2AK1, ACTG1
47	MAPK Signaling36	7.7	GHRH, TNF, SPP1, PPBP, RPS6KA3, COL1A1
48	Antioxidant Action of Vitamin-C36	7.7	TNF, TNFSF11, PPBP, PLA2G7, ACTG1, CSF3
49	Cytokine-cytokine receptor interaction20	7.6	TNF, TNFRSF11B, TNFSF11, PPBP, CSF3, EPO
50	Tuberculosis20	7.4	HLA-DQB1, HLA-DRB1, TNF, CYCS, CREBBP, NOS2

Compounds related to thalassemia according to GeneDecks:

(show top 50)    (show all 573)

id	Compound	Score	Top Affiliating Genes
1	cyclophosphamide32 34 9 9	13.9	ITGA4, APOH, NPPB
2	25-hydroxyvitamin d32	10.6	VDR, BGLAP, LEP, ALPP, TNFRSF11B, TNFSF11
3	5-aminolevulinic acid32 18	11.6	NAGLU, VDR, IREB2, HMOX1, HMBS, TPO
4	citrate32	10.5	PIK3C2A, NAGLU, VDR, IREB2, F10, CAT
5	glucose32	10.5	CKM, CGB, CFB, IREB2, GSN, GP1BA
6	vitamin b1232	10.4	VWF, MTHFR, B2M, APOH, IGFBP3, IGF1
7	vitamin-e32	10.4	PIK3C2A, NAGLU, VCAM1, B2M, JAK2, GSR
8	uric acid32 18	11.4	PIK3C2A, NAGLU, LEP, MTHFR, B2M, INS
9	folate32	10.0	VWF, SELE, SERPINC1, VDR, VCAM1, MTHFR
10	1,25 dihydroxy vitamin d332	10.0	VDR, BGLAP, PAPPA, CD4, IGFBP3, IGF1
11	methionine32	9.9	VWF, MYB, IREB2, GSN, GSTT1, MECP2
12	dopamine32 9 18 9	12.9	SELE, NAGLU, MTHFR, CGA, GNRH1, GH1
13	sevoflurane32 9 9	11.9	NAGLU, B2M, GPT, ALB, ALPP, HMBS
14	n acetylcysteine32	9.9	VWF, SELE, SERPINC1, NAGLU, VCAM1, JAK2
15	homocysteine32 18	10.8	PIK3C2A, VWF, SELE, SERPINC1, NAGLU, VCAM1
16	alpha tocopherol32	9.8	VCAM1, BGLAP, CKM, LEP, MTHFR, GSR
17	glutamine32	9.6	VWF, VDR, MYB, B2M, ITGB1, IL3
18	fibrinogen32	9.5	PIK3C2A, SELE, SERPINC1, VCAM1, LEP, CHIT1
19	raloxifene32 9 9	11.5	VWF, SERPINC1, VDR, BGLAP, UGT1A1, IGFBP3
20	glutamate32	9.5	VDR, CKM, LEP, MTHFR, JAK2, CD4
21	menadione32 9 18 9	12.4	BGLAP, MTHFR, GSN, GSR, ANXA5, IGF1
22	butyrate32	9.4	VDR, MYB, LEP, B2M, JAK2, ITGA4
23	ribavirin32 34 9 9	12.4	LEP, IL3, GPT, IFNA1, IFNA2, IFNG
24	nifedipine32 9 9	11.3	SELE, NAGLU, BGLAP, LEP, UGT1A, B2M
25	h2o232	9.2	VWF, NAGLU, MYB, BGLAP, LEP, CGA
26	mycophenolate mofetil32 9 9	11.2	SELE, UGT1A, UGT1A1, IL3, GPT, IFNA1
27	vitamin d32	9.1	NAGLU, VDR, BGLAP, MTHFR, B2M, CGA
28	atp32	9.0	PIK3C2A, KIR3DL1, BLM, CKM, ATRX, JAK2
29	thyroxine32 18	10.0	PIK3C2A, VWF, VDR, BGLAP, LEP, UGT1A
30	arginine32	8.9	PIK3C2A, VWF, SERPINC1, VDR, MYB, BGLAP
31	calcium32 9 18 9	11.8	PIK3C2A, VWF, NAGLU, MYB, BGLAP, PAPPA
32	s-nitroso-n-acetylpenicillamine32	8.7	IL1B, ANXA5, IFNG, CAT, HMOX1, TPH1
33	creatinine32	8.7	VWF, SELE, SERPINC1, NAGLU, VDR, PAPPA
34	estrogen32	8.5	VWF, SERPINC1, VDR, BGLAP, LEP, UGT1A
35	rosiglitazone32 9 18 9	11.3	SELE, VCAM1, LCN2, JAK2, INS, IL6
36	atorvastatin32 34 9 18 9	12.3	PIK3C2A, VWF, SELE, VCAM1, IL6, GPT
37	superoxide32 18	9.3	PIK3C2A, NAGLU, VCAM1, LCN2, GSN, GSR
38	sb 20358032 42	9.2	SELE, VDR, VCAM1, BGLAP, ITGB1, IL6
39	adenylate32	8.2	VWF, SELE, SERPINC1, VDR, VCAM1, MYB
40	cholesterol32 9 18 9	11.1	PIK3C2A, VWF, SELE, NAGLU, VCAM1, PAPPA
41	alanine32	8.0	PIK3C2A, VWF, SELE, SERPINC1, NAGLU, VDR
42	lipid32	7.7	PIK3C2A, KIR3DL1, SELE, NAGLU, VCAM1, MYB
43	methotrexate32 34 42 9 9	11.5	PIK3C2A, SELE, NAGLU, LEP, MTHFR, CGA
44	simvastatin32 34 42 9 18 9	12.4	PIK3C2A, VWF, SELE, VCAM1, BGLAP, IL6
45	thymidine32 18	8.0	NAGLU, VDR, MYB, UGT1A1, MTHFR, B2M
46	lactate32	6.8	PIK3C2A, VWF, SELE, NAGLU, VCAM1, BLMH
47	indomethacin32 9 9	8.6	LEP, UGT1A, UGT1A1, B2M, CGA, JAK2
48	actinomycin d32	6.5	SELE, VDR, MYB, PAPPA, UGT1A, CGA
49	genistein32 9 18 9	9.4	SELE, VDR, VCAM1, UGT1A, UGT1A1, B2M
50	retinoic acid32 42 18	7.7	VWF, VDR, VCAM1, MYB, BGLAP, UGT1A

Cellular components related to thalassemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemoglobin complex	GO:005833	11.0	AHSP, HBZ, HBQ1, HBG2, HBG1, HBE1
2	haptoglobin-hemoglobin complex	GO:031838	10.6	HP, HBA2, HBB
3	integral to plasma membrane	GO:005887	9.4	OPN1LW, PROCR, OR52A1, TFRC, TFR2, OPN1MW2
4	cytosol	GO:005829	8.8	PKLR, RPS6KA3, NOS2, SPTB, SPTA1, SPTBN1
5	external side of plasma membrane	GO:009897	8.7	TNF, HLA-DRB1, IFNG, ANXA5, ITGB1, ITGA4
6	plasma membrane	GO:005886	7.8	HFE2, TFRC, DKK1, OR52A4, OR51V1, HFE
7	extracellular region	GO:005576	6.5	EPO, GDF15, HAMP, VWF, IL3, IL6
8	extracellular space	GO:005615	5.7	IL6, APOH, IGFBP3, IGF1, IFNA2, IFNG

Biological processes related to thalassemia according to GeneDecks:

(show all 38)

id	Name	GO ID	Score	Top Affiliating Genes
1	erythrocyte maturation	GO:043249	10.9	EPO, HBZ, G6PD, KLF1
2	oxygen transport	GO:015671	10.9	HBQ1, HBB, HBA2, CYGB
3	heterocycle metabolic process	GO:046483	10.8	CYP2E1, CYP3A4, CYP1A2, UGT1A1
4	iron ion transport	GO:006826	10.8	TFR2, HFE, IREB2, FTL, FTH1
5	response to hydrogen peroxide	GO:042542	10.7	SOD1, HBB, HBA2, COL1A1, HMOX1, HP
6	cellular iron ion homeostasis	GO:006879	10.7	HAMP, SLC40A1, SLC11A2, SOD1, TFRC, TFR2
7	embryonic hemopoiesis	GO:035162	10.6	GATA1, TPO, IL3, ZFPM1, KLF1
8	platelet degranulation	GO:002576	10.4	SOD1, TF, PPBP, CAP1, ALB, F5
9	immune response	GO:006955	10.3	TRIM22, TNFSF11, PPBP, HFE, PROCR, CSF3
10	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	10.3	JAK2, IL3, IGF1, GH1, EPO
11	blood coagulation, intrinsic pathway	GO:007597	10.3	F10, F2, GP1BA, APOH, VWF
12	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	10.2	IGFBP3, IGF1, GH1, GHRH
13	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	10.2	GH1, CAT, F2, IGF1, INS, JAK2
14	leukocyte cell-cell adhesion	GO:007159	10.1	CALCA, ITGB1, ITGA4, VCAM1, SELE
15	response to estrogen stimulus	GO:043627	10.1	TNFRSF11B, HMOX1, GHRL, ESR1, BGLAP, EPO
16	blood coagulation	GO:007596	9.9	GATA1, CAP1, PPBP, NOS2, COL1A1, ACTG1
17	leukocyte tethering or rolling	GO:050901	9.9	TNF, LEP, VCAM1, SELE
18	interferon-gamma-mediated signaling pathway	GO:060333	9.8	HLA-DRB1, HLA-DQB1, HLA-DPB1, HLA-C, IFNG, JAK2
19	embryo implantation	GO:007566	9.7	EPO, SOD1, SPP1, CALCA, IL1B
20	platelet activation	GO:030168	9.5	SOD1, TF, COL1A1, PPBP, CAP1, ALB
21	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.5	GATA1, GH1, IGF1, IL6, IL3, INS
22	small molecule metabolic process	GO:044281	9.5	NT5E, CYCS, CYP2E1, CYP3A4, CYP1A2, TPO
23	response to drug	GO:042493	9.4	GAD1, NPPB, SOD1, SST, TNFRSF11B, TNF
24	cell-cell signaling	GO:007267	9.4	GHRH, PTH, SST, GATA1, GDF15, CALCA
25	negative regulation of apoptotic process	GO:043066	9.2	RPS6KA3, WT1, SOX8, EPO, GATA1, TNF
26	response to hypoxia	GO:001666	9.2	SLC11A2, NPPB, PKLR, NOS2, CREBBP, TNF
27	negative regulation of transcription from RNA polymerase II promoter	GO:000122	9.0	SMARCA4, CREBBP, WT1, HBE1, HBZ, DNMT1
28	positive regulation of calcidiol 1-monooxygenase activity	GO:060559	9.0	IL1B, IFNG, TNF
29	positive regulation of nitric oxide biosynthetic process	GO:045429	8.9	HBB, TNF, ESR1, IFNG, IL1B, INS
30	negative regulation of transcription, DNA-dependent	GO:045892	8.9	DAXX, SMARCA2, SMARCA4, WT1, DNMT3L, SOX8
31	positive regulation of chemokine biosynthetic process	GO:045080	8.8	TNF, HMOX1, IFNG, IL1B
32	positive regulation of cell proliferation	GO:008284	8.7	IGF1, F2, GHRH, CSF3, EPO, IL6
33	anti-apoptosis	GO:006916	8.6	EPO, SOD1, TERT, TNF, HMOX1, GHRL
34	positive regulation of sequence-specific DNA binding transcription factor activity	GO:051091	8.2	SMARCA4, TNFSF11, TNF, ESR1, IL6, IL1B
35	positive regulation of transcription, DNA-dependent	GO:045893	8.1	SMARCA1, SMARCA2, SMARCA4, CREBBP, COL1A1, WT1
36	negative regulation of cell proliferation	GO:008285	8.1	IGF1, GNRH1, TNF, SST, SMARCA2, WT1
37	cytokine-mediated signaling pathway	GO:019221	7.9	HLA-DPB1, HLA-DQB1, HLA-DRB1, TNFSF11, CSF3, HLA-C
38	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.8	PTH, SP1, SMARCA2, SMARCA4, CREBBP, RPS6KA3

Molecular functions related to thalassemia according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	oxygen transporter activity	GO:005344	11.1	HBZ, HBQ1, HBG2, HBG1, HBE1, HBD
2	oxygen binding	GO:019825	11.0	HBZ, ALB, HBQ1, HBG2, HBG1, HBE1
3	iron ion binding	GO:005506	10.3	HBA2, NOS2, CYGB, CYCS, CYP2E1, CYP3A4
4	protease binding	GO:002020	9.9	SERPINC1, ITGB1, INS, TNF, CST3
5	peptide hormone receptor binding	GO:051428	9.8	NPPB, PTH, JAK2, LEP
6	enzyme binding	GO:019899	9.7	CYP1A2, CYP3A4, CYP2E1, DNMT3L, CSF3, SLPI
7	heme binding	GO:020037	9.7	HBG2, HBG1, HBE1, HBD, HBB, HBA2
8	helicase activity	GO:004386	9.7	HELLS, SMARCA4, SMARCA2, SMARCA1, ATRX, BLM
9	hormone activity	GO:005179	9.7	PTH, SST, NPPB, HAMP, EPO, GH1
10	protein homodimerization activity	GO:042803	9.6	SP1, NOS2, SHBG, EIF2AK1, G6PD, SOD1
11	growth factor activity	GO:008083	8.2	PPBP, DKK1, CSF3, GDF15, GH1, F2
12	cytokine activity	GO:005125	7.6	GDF15, CSF3, SPP1, TNFSF11, TNFRSF11B, TNF
13	protein binding	GO:005515	5.9	SMARCA1, SMARCA2, SMARCA4, SMC3, CREBBP, NOS2