Beta Thalassemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. (Human Disease Ontology, DOID_12241)
External Link https://www.disgenet.org/browser/0/1/0/C0005283
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Genes

183 genes associated with the disease Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AFP alpha-fetoprotein
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AHSP alpha hemoglobin stabilizing protein
AICDA activation-induced cytidine deaminase
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALB albumin
ANK2 ankyrin 2, neuronal
ANXA5 annexin A5
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
ATOH8 atonal homolog 8 (Drosophila)
ATRX alpha thalassemia/mental retardation syndrome X-linked
B2M beta-2-microglobulin
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BRD4 bromodomain containing 4
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CA2 carbonic anhydrase II
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CAP1 CAP, adenylate cyclase-associated protein 1 (yeast)
CAT catalase
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CD177 CD177 molecule
CD19 CD19 molecule
CD34 CD34 molecule
CD37 CD37 molecule
CD38 CD38 molecule
CHIT1 chitinase 1 (chitotriosidase)
COL1A1 collagen, type I, alpha 1
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPB2 carboxypeptidase B2 (plasma)
CREB1 cAMP responsive element binding protein 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CRYL1 crystallin, lambda 1
CSF3 colony stimulating factor 3 (granulocyte)
CUL9 cullin 9
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DHODH dihydroorotate dehydrogenase (quinone)
DLL1 delta-like 1 (Drosophila)
DNASE1 deoxyribonuclease I
DPP4 dipeptidyl-peptidase 4
ELANE elastase, neutrophil expressed
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPO erythropoietin
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FAM132B family with sequence similarity 132, member B
FBN2 fibrillin 2
FCAR Fc fragment of IgA receptor
FN1 fibronectin 1
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
FXN frataxin
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF15 growth differentiation factor 15
GLUD1 glutamate dehydrogenase 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRAP2 GRB2-related adaptor protein 2
GSN gelsolin
GSTA1 glutathione S-transferase alpha 1
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HBE1 hemoglobin, epsilon 1
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBS1L HBS1-like translational GTPase
HBZ hemoglobin, zeta
HFE hemochromatosis
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HPGDS hematopoietic prostaglandin D synthase
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNL3 interferon, lambda 3
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
KIDINS220 kinase D-interacting substrate, 220kDa
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
KLF10 Kruppel-like factor 10
LARP1B La ribonucleoprotein domain family, member 1B
LCN2 lipocalin 2
LEP leptin
LNPEP leucyl/cystinyl aminopeptidase
LOC101060233 medium-wave-sensitive opsin 1
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MYB v-myb avian myeloblastosis viral oncogene homolog
NOG noggin
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OR13J1 olfactory receptor, family 13, subfamily J, member 1
PALLD palladin, cytoskeletal associated protein
PGD phosphogluconate dehydrogenase
PGF placental growth factor
PMCH pro-melanin-concentrating hormone
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PON1 paraoxonase 1
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PRDX5 peroxiredoxin 5
PRKCSH protein kinase C substrate 80K-H
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6
PTH parathyroid hormone
RANGAP1 Ran GTPase activating protein 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNGTT RNA guanylyltransferase and 5'-phosphatase
RPS19 ribosomal protein S19
SACS sacsin molecular chaperone
SAMD14 sterile alpha motif domain containing 14
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCLT1 sodium channel and clathrin linker 1
SEA S13 erythroblastosis (avian) oncogene homolog
SEC23B Sec23 homolog B (S. cerevisiae)
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SFMBT2 Scm-like with four mbt domains 2
SHBG sex hormone-binding globulin
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SORBS1 sorbin and SH3 domain containing 1
SOST sclerostin
SOX6 SRY (sex determining region Y)-box 6
SPN sialophorin
SPRR2A small proline-rich protein 2A
SPTA1 spectrin, alpha, erythrocytic 1
SPTBN1 spectrin, beta, non-erythrocytic 1
STK3 serine/threonine kinase 3
TBP TATA box binding protein
TERT telomerase reverse transcriptase
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
THOC5 THO complex 5
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TPH1 tryptophan hydroxylase 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
UBL4A ubiquitin-like 4A
UGDH UDP-glucose 6-dehydrogenase
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
UMPS uridine monophosphate synthetase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
XPO1 exportin 1
YY1 YY1 transcription factor
ZHX2 zinc fingers and homeoboxes 2
ZNF471 zinc finger protein 471