beta thalassemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

148 genes co-occuring with the disease beta thalassemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HBG2 hemoglobin, gamma G 2.97261
HBB hemoglobin, beta 2.80593
HBE1 hemoglobin, epsilon 1 2.56832
HBA1 hemoglobin, alpha 1 2.51143
HBA2 hemoglobin, alpha 2 2.48476
HBD hemoglobin, delta 2.33807
SCN2A sodium channel, voltage gated, type II alpha subunit 1.97924
FTL ferritin, light polypeptide 1.95911
FTH1 ferritin, heavy polypeptide 1 1.95582
AHSP alpha hemoglobin stabilizing protein 1.71453
TFRC transferrin receptor 1.43288
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.41139
TF transferrin 1.37469
SPTB spectrin, beta, erythrocytic 1.35638
HBS1L HBS1-like translational GTPase 1.32323
KLF1 Kruppel-like factor 1 (erythroid) 1.24081
HFE hemochromatosis 1.21478
HAMP hepcidin antimicrobial peptide 1.21002
G6PD glucose-6-phosphate dehydrogenase 1.12952
INTS5 integrator complex subunit 5 1.10594
HBG1 hemoglobin, gamma A 1.01512
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 0.998236
SAMHD1 SAM domain and HD domain 1 0.949102
OR51B2 olfactory receptor, family 51, subfamily B, member 2 (gene/pseudogene) 0.938289
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.938289
INTU inturned planar cell polarity protein 0.932484
CD37 CD37 molecule 0.881472
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 0.872053
GATA1 GATA binding protein 1 (globin transcription factor 1) 0.846669
EPB41 erythrocyte membrane protein band 4.1 0.836017
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0.833558
IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) 0.826178
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0.822897
HBZ hemoglobin, zeta 0.794591
F2 coagulation factor II (thrombin) 0.776977
ANK1 ankyrin 1, erythrocytic 0.757378
PKLR pyruvate kinase, liver and RBC 0.741923
CHIT1 chitinase 1 (chitotriosidase) 0.724907
CYGB cytoglobin 0.708364
ALDH8A1 aldehyde dehydrogenase 8 family, member A1 0.699919
TFR2 transferrin receptor 2 0.691896
EPO erythropoietin 0.689492
OR51B5 olfactory receptor, family 51, subfamily B, member 5 0.687491
CD6 CD6 molecule 0.686291
PROS1 protein S (alpha) 0.653276
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 0.643797
PKM pyruvate kinase, muscle 0.623359
LIG1 ligase I, DNA, ATP-dependent 0.621008
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 0.616703
PRKG1 protein kinase, cGMP-dependent, type I 0.612011
CD34 CD34 molecule 0.606152
GBA2 glucosidase, beta (bile acid) 2 0.594064
RHCE Rh blood group, CcEe antigens 0.580439
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.565666
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 0.562946
MYB v-myb avian myeloblastosis viral oncogene homolog 0.53928
KLF11 Kruppel-like factor 11 0.537731
HFE2 hemochromatosis type 2 (juvenile) 0.51188
SPTA1 spectrin, alpha, erythrocytic 1 0.501527
EMC10 ER membrane protein complex subunit 10 0.499231
IGF1 insulin-like growth factor 1 (somatomedin C) 0.489691
LIG4 ligase IV, DNA, ATP-dependent 0.479807
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 0.463149
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 0.460129
GPX5 glutathione peroxidase 5 0.442418
HLA-C major histocompatibility complex, class I, C 0.43941
GPX4 glutathione peroxidase 4 0.439034
ALPP alkaline phosphatase, placental 0.439034
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.435275
GPX1 glutathione peroxidase 1 0.424014
SOD2 superoxide dismutase 2, mitochondrial 0.423265
ALPPL2 alkaline phosphatase, placental-like 2 0.41465
ALPL alkaline phosphatase, liver/bone/kidney 0.413527
FOXG1 forkhead box G1 0.387423
MGAM maltase-glucoamylase 0.384822
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) 0.382966
HP haptoglobin 0.364454
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 0.361133
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.359289
HPR haptoglobin-related protein 0.358551
BGLAP bone gamma-carboxyglutamate (gla) protein 0.357446
LIG3 ligase III, DNA, ATP-dependent 0.356709
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 0.351187
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.348981
ALB albumin 0.346042
APEH acylaminoacyl-peptide hydrolase 0.346042
F5 coagulation factor V (proaccelerin, labile factor) 0.345675
TRH thyrotropin-releasing hormone 0.343106
MIPEP mitochondrial intermediate peptidase 0.343106
RHD Rh blood group, D antigen 0.340539
PGM2 phosphoglucomutase 2 0.335412
SPO11 SPO11 meiotic protein covalently bound to DSB 0.333218
CAT catalase 0.332487
PGM1 phosphoglucomutase 1 0.32993
NT5E 5'-nucleotidase, ecto (CD73) 0.325552
CD27 CD27 molecule 0.313915
SRSF9 serine/arginine-rich splicing factor 9 0.309566
TMPRSS6 transmembrane protease, serine 6 0.308118
APOB apolipoprotein B 0.299452
ZFPM1 zinc finger protein, FOG family member 1 0.298371
IGFBP3 insulin-like growth factor binding protein 3 0.294053
OR52A4P olfactory receptor, family 52, subfamily A, member 4, pseudogene 0.290462
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 0.280796
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.274732
GDF15 growth differentiation factor 15 0.273664
PTH parathyroid hormone 0.27153
ECI1 enoyl-CoA delta isomerase 1 0.267267
CD19 CD19 molecule 0.249608
PDE7B phosphodiesterase 7B 0.248554
CD93 CD93 molecule 0.245046
ANXA5 annexin A5 0.241895
EPOR erythropoietin receptor 0.241895
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.238403
CD5 CD5 molecule 0.232836
B3GAT2 beta-1,3-glucuronyltransferase 2 0.230755
B2M beta-2-microglobulin 0.230409
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.222479
FAM134B family with sequence similarity 134, member B 0.215314
FLNA filamin A, alpha 0.215314
GGT2 gamma-glutamyltransferase 2 0.211934
CD36 CD36 molecule (thrombospondin receptor) 0.211261
SRSF5 serine/arginine-rich splicing factor 5 0.211261
GBA glucosidase, beta, acid 0.207245
STAC SH3 and cysteine rich domain 0.206913
IL3 interleukin 3 0.204923
GSR glutathione reductase 0.203604
PCBP2 poly(rC) binding protein 2 0.202618
OR51V1 olfactory receptor, family 51, subfamily V, member 1 0.20229
OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene 0.20229
OR52A5 olfactory receptor, family 52, subfamily A, member 5 0.20229
BATF2 basic leucine zipper transcription factor, ATF-like 2 0.196459
F10 coagulation factor X 0.194865
CSNK2B casein kinase 2, beta polypeptide 0.194548
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.194232
GGT1 gamma-glutamyltransferase 1 0.189551
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.185612
ICAM1 intercellular adhesion molecule 1 0.185612
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 0.184424
F8 coagulation factor VIII, procoagulant component 0.180652
INS insulin 0.178126
FAM132A family with sequence similarity 132, member A 0.177029
ANXA7 annexin A7 0.176485
AK2 adenylate kinase 2 0.173057
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.172038
NCBP1 nuclear cap binding protein subunit 1, 80kDa 0.162306
HLA-A major histocompatibility complex, class I, A 0.162306
IL1R2 interleukin 1 receptor, type II 0.161716
KITLG KIT ligand 0.161331