thalassemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_10241)
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Genes

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

Symbol Name Standardized Value
HBB hemoglobin, beta 3.08772
HBG2 hemoglobin, gamma G 3.03723
HBA1 hemoglobin, alpha 1 2.92944
HBA2 hemoglobin, alpha 2 2.89656
HBE1 hemoglobin, epsilon 1 2.79603
HBD hemoglobin, delta 2.72601
SCN2A sodium channel, voltage gated, type II alpha subunit 2.41137
ATRX alpha thalassemia/mental retardation syndrome X-linked 2.33497
FTL ferritin, light polypeptide 2.28473
FTH1 ferritin, heavy polypeptide 1 2.28316
AHSP alpha hemoglobin stabilizing protein 1.91127
HBZ hemoglobin, zeta 1.83682
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.83183
HBS1L HBS1-like translational GTPase 1.72867
TF transferrin 1.71271
HAMP hepcidin antimicrobial peptide 1.70178
KLF1 Kruppel-like factor 1 (erythroid) 1.66735
TFRC transferrin receptor 1.58805
G6PD glucose-6-phosphate dehydrogenase 1.51984
SPTB spectrin, beta, erythrocytic 1.49218
HBQ1 hemoglobin, theta 1 1.47769
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 1.44474
HBG1 hemoglobin, gamma A 1.38254
HFE hemochromatosis 1.34417
SAMHD1 SAM domain and HD domain 1 1.32061
GATA1 GATA binding protein 1 (globin transcription factor 1) 1.19877
IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) 1.1588
MYB v-myb avian myeloblastosis viral oncogene homolog 1.14857
DAXX death-domain associated protein 1.13501
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1.11772
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1.05976
PKLR pyruvate kinase, liver and RBC 1.05681
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 1.04756
TFR2 transferrin receptor 2 1.03535
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.00668
GDF15 growth differentiation factor 15 0.997814
OR52A5 olfactory receptor, family 52, subfamily A, member 5 0.992752
OR51V1 olfactory receptor, family 51, subfamily V, member 1 0.992752
OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene 0.992752
CYGB cytoglobin 0.974642
CD34 CD34 molecule 0.9717
PKM pyruvate kinase, muscle 0.962053
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 0.944938
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.939119
EPB41 erythrocyte membrane protein band 4.1 0.928759
HLA-C major histocompatibility complex, class I, C 0.925039
INTS5 integrator complex subunit 5 0.9238
HP haptoglobin 0.912668
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 0.912668
HPR haptoglobin-related protein 0.905675
OR51B5 olfactory receptor, family 51, subfamily B, member 5 0.900746
HFE2 hemochromatosis type 2 (juvenile) 0.89541
TMPRSS6 transmembrane protease, serine 6 0.876557
EPO erythropoietin 0.861409
ANK1 ankyrin 1, erythrocytic 0.847488
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 0.830689
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.827819
CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 0.825768
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like 0.774932
SPTA1 spectrin, alpha, erythrocytic 1 0.766759
OR51B2 olfactory receptor, family 51, subfamily B, member 2 (gene/pseudogene) 0.760639
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.760639
INTU inturned planar cell polarity protein 0.754527
IGF1 insulin-like growth factor 1 (somatomedin C) 0.753306
CHIT1 chitinase 1 (chitotriosidase) 0.741923
F2 coagulation factor II (thrombin) 0.733001
RHCE Rh blood group, CcEe antigens 0.726929
CD6 CD6 molecule 0.710378
CD37 CD37 molecule 0.710378
OR52A4P olfactory receptor, family 52, subfamily A, member 4, pseudogene 0.703134
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 0.695103
QKI QKI, KH domain containing, RNA binding 0.692697
PRDX2 peroxiredoxin 2 0.683493
PROS1 protein S (alpha) 0.679499
LIG1 ligase I, DNA, ATP-dependent 0.670732
KRT40 keratin 40, type I 0.664372
EPOR erythropoietin receptor 0.663975
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0.65763
BGLAP bone gamma-carboxyglutamate (gla) protein 0.653671
MED20 mediator complex subunit 20 0.649323
GBA2 glucosidase, beta (bile acid) 2 0.648928
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0.647348
SOX6 SRY (sex determining region Y)-box 6 0.643009
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.636708
ZFPM1 zinc finger protein, FOG family member 1 0.626495
PTH parathyroid hormone 0.617094
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.596012
RHD Rh blood group, D antigen 0.595623
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.590948
IGBP1 immunoglobulin (CD79A) binding protein 1 0.587444
FOXG1 forkhead box G1 0.580828
ALPP alkaline phosphatase, placental 0.573439
ALB albumin 0.56722
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.566054
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.5645
GGT2 gamma-glutamyltransferase 2 0.561392
CBX5 chromobox homolog 5 0.561392
ALPPL2 alkaline phosphatase, placental-like 2 0.55945
LIG3 ligase III, DNA, ATP-dependent 0.559062
ALPL alkaline phosphatase, liver/bone/kidney 0.558674
MIPEP mitochondrial intermediate peptidase 0.557509
GPX5 glutathione peroxidase 5 0.553239
F5 coagulation factor V (proaccelerin, labile factor) 0.552075
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 0.551686
GPX4 glutathione peroxidase 4 0.549747
GPX1 glutathione peroxidase 1 0.534248
ALDH8A1 aldehyde dehydrogenase 8 family, member A1 0.529608
ALAS2 5'-aminolevulinate synthase 2 0.528063
LIG4 ligase IV, DNA, ATP-dependent 0.528063
CAT catalase 0.520346
LUC7L LUC7-like (S. cerevisiae) 0.513802
SPO11 SPO11 meiotic protein covalently bound to DSB 0.513033
HIST1H3H histone cluster 1, H3h 0.511112
HIST1H3E histone cluster 1, H3e 0.511112
HIST1H3C histone cluster 1, H3c 0.511112
HIST1H3A histone cluster 1, H3a 0.511112
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 0.502675
GHRH growth hormone releasing hormone 0.499997
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 0.491597
GGT1 gamma-glutamyltransferase 1 0.488169
SOD2 superoxide dismutase 2, mitochondrial 0.481325
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.469197
PRKG1 protein kinase, cGMP-dependent, type I 0.467684
OPHN1 oligophrenin 1 0.460506
ECI1 enoyl-CoA delta isomerase 1 0.460129
ZBED9 zinc finger, BED-type containing 9 0.454093
RAD54L2 RAD54-like 2 (S. cerevisiae) 0.448817
IL1R2 interleukin 1 receptor, type II 0.4443
HLA-A major histocompatibility complex, class I, A 0.443547
PDE7B phosphodiesterase 7B 0.440162
SOX8 SRY (sex determining region Y)-box 8 0.43941
INS insulin 0.439034
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 0.411283
PGD phosphogluconate dehydrogenase 0.405678
ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma 0.402318
TAAR8 trace amine associated receptor 8 0.401945
TSPYL1 TSPY-like 1 0.398216
H3F3A H3 histone, family 3A 0.397098
H3F3B H3 histone, family 3B (H3.3B) 0.397098
PHPT1 phosphohistidine phosphatase 1 0.395235
DNAH8 dynein, axonemal, heavy chain 8 0.393746
HOOK3 hook microtubule-tethering protein 3 0.392257
TCHP trichoplein, keratin filament binding 0.389653
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.385936
PIGH phosphatidylinositol glycan anchor biosynthesis, class H 0.383337
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.382594
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 0.381852
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 0.379626
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.379256
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 0.377773
KLF11 Kruppel-like factor 11 0.373698
CD4 CD4 molecule 0.372217
MGAM maltase-glucoamylase 0.369628
EPPIN epididymal peptidase inhibitor 0.36704
FLNA filamin A, alpha 0.364824
ANXA5 annexin A5 0.360395
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 0.356341
JAK2 Janus kinase 2 0.354868
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 0.354499
BAIAP3 BAI1-associated protein 3 0.354499
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 0.345675
FYB FYN binding protein 0.342006
CD53 CD53 molecule 0.338707
EMC10 ER membrane protein complex subunit 10 0.337242
IGFBP3 insulin-like growth factor binding protein 3 0.336876
CD5 CD5 molecule 0.325552
COMMD7 COMM domain containing 7 0.32373
TRH thyrotropin-releasing hormone 0.322637
F3 coagulation factor III (thromboplastin, tissue factor) 0.318999
PGM1 phosphoglucomutase 1 0.316819
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 0.315729
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.31464
SEC23B Sec23 homolog B (S. cerevisiae) 0.305948
MECP2 methyl CpG binding protein 2 0.300533
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 0.299812
CD36 CD36 molecule (thrombospondin receptor) 0.292257
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0.290821
PRMT5 protein arginine methyltransferase 5 0.280796
PQBP1 polyglutamine binding protein 1 0.280082
CD151 CD151 molecule (Raph blood group) 0.278654
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 0.277227
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 0.271886
HPX hemopexin 0.270464
NT5E 5'-nucleotidase, ecto (CD73) 0.263368
GDF11 growth differentiation factor 11 0.260184
SENP6 SUMO1/sentrin specific peptidase 6 0.260184
ADCY9 adenylate cyclase 9 0.254183
TWSG1 twisted gastrulation BMP signaling modulator 1 0.251366
CD19 CD19 molecule 0.24996
ANXA7 annexin A7 0.246799
CD27 CD27 molecule 0.246799
CD59 CD59 molecule, complement regulatory protein 0.243995
PIGC phosphatidylinositol glycan anchor biosynthesis, class C 0.239799
CHD3 chromodomain helicase DNA binding protein 3 0.23945
SCARB2 scavenger receptor class B, member 2 0.239101
ICAM1 intercellular adhesion molecule 1 0.239101
EPB42 erythrocyte membrane protein band 4.2 0.239101
GSR glutathione reductase 0.238054
GBA glucosidase, beta, acid 0.23353
F8 coagulation factor VIII, procoagulant component 0.230063
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) 0.226607
SRY sex determining region Y 0.222479
HIST2H3PS2 histone cluster 2, H3, pseudogene 2 0.219398
PIGP phosphatidylinositol glycan anchor biosynthesis, class P 0.216332
MED25 mediator complex subunit 25 0.214975
POLL polymerase (DNA directed), lambda 0.205916
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.204923
KLF10 Kruppel-like factor 10 0.200982
CSNK2A2 casein kinase 2, alpha prime polypeptide 0.200656
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 0.198064
PGK1 phosphoglycerate kinase 1 0.194865
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor 0.194548
APEH acylaminoacyl-peptide hydrolase 0.193285
APOB apolipoprotein B 0.192971
B2M beta-2-microglobulin 0.192971
CST3 cystatin C 0.191408
SCARB1 scavenger receptor class B, member 1 0.188632
HEPH hephaestin 0.18621
PGM2 phosphoglucomutase 2 0.184424
HMGA2 high mobility group AT-hook 2 0.183541
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.181798
F10 coagulation factor X 0.18151
NR2E1 nuclear receptor subfamily 2, group E, member 1 0.180937
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 0.178403
TRIO trio Rho guanine nucleotide exchange factor 0.174093
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 0.171286
MECOM MDS1 and EVI1 complex locus 0.171286
CRP C-reactive protein, pentraxin-related 0.170054
HIST1H3J histone cluster 1, H3j 0.168381
HIST1H3B histone cluster 1, H3b 0.168381
HIST1H3D histone cluster 1, H3d 0.168381
HIST1H3I histone cluster 1, H3i 0.168381
HIST1H3G histone cluster 1, H3g 0.168381
HIST1H3F histone cluster 1, H3f 0.168381
KL klotho 0.167452
CP ceruloplasmin (ferroxidase) 0.166544
SRSF9 serine/arginine-rich splicing factor 9 0.165874
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.165217
DMTN dematin actin binding protein 0.161912
ACTG1 actin gamma 1 0.161523
VCAM1 vascular cell adhesion molecule 1 0.160203
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.160021
IL3 interleukin 3 0.158605
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.157765
PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 0.142835
RAD54L RAD54-like (S. cerevisiae) 0.142713
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.141981
BTG3 BTG family, member 3 0.141531
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 0.14138
RTN3 reticulon 3 0.141202
FABP9 fatty acid binding protein 9, testis 0.140772
TRIM5 tripartite motif containing 5 0.14061
SOX9 SRY (sex determining region Y)-box 9 0.140148
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.139944
PLEKHN1 pleckstrin homology domain containing, family N member 1 0.139598
CD93 CD93 molecule 0.139046
PDS5B PDS5 cohesin associated factor B 0.1387
KDM5C lysine (K)-specific demethylase 5C 0.138676
DMRT1 doublesex and mab-3 related transcription factor 1 0.138564
B3GAT2 beta-1,3-glucuronyltransferase 2 0.138551
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.138243
FAM134B family with sequence similarity 134, member B 0.13796
SOX10 SRY (sex determining region Y)-box 10 0.137835
SRSF5 serine/arginine-rich splicing factor 5 0.137793
PML promyelocytic leukemia 0.137765
STAC SH3 and cysteine rich domain 0.137607
PCBP2 poly(rC) binding protein 2 0.137416
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 0.137158
BATF2 basic leucine zipper transcription factor, ATF-like 2 0.137127
PTK2 protein tyrosine kinase 2 0.137112
CSNK2B casein kinase 2, beta polypeptide 0.137034
FNDC3A fibronectin type III domain containing 3A 0.136986
ADD2 adducin 2 (beta) 0.136581
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 0.136497
FAM132A family with sequence similarity 132, member A 0.136045
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 0.13592
ACTB actin, beta 0.135791
AK2 adenylate kinase 2 0.135773
NCBP1 nuclear cap binding protein subunit 1, 80kDa 0.134854
KITLG KIT ligand 0.13475