hemoglobinopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

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

Symbol Name Standardized Value
CYB5A cytochrome b5 type A (microsomal) 2.69797
HBE1 hemoglobin, epsilon 1 2.45173
HBB hemoglobin, beta 2.44186
HBD hemoglobin, delta 2.35769
HBG2 hemoglobin, gamma G 2.31793
CYB5R3 cytochrome b5 reductase 3 2.26323
SCN2A sodium channel, voltage gated, type II alpha subunit 2.09195
HBA1 hemoglobin, alpha 1 1.98296
HBA2 hemoglobin, alpha 2 1.96004
G6PD glucose-6-phosphate dehydrogenase 1.67955
KLF1 Kruppel-like factor 1 (erythroid) 1.62023
CYB5R4 cytochrome b5 reductase 4 1.61217
CYB5RL cytochrome b5 reductase-like 1.59251
CYB5R1 cytochrome b5 reductase 1 1.58805
CYB5R2 cytochrome b5 reductase 2 1.56978
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.43244
SAMHD1 SAM domain and HD domain 1 1.19575
HBS1L HBS1-like translational GTPase 1.19229
FTL ferritin, light polypeptide 1.1524
FTH1 ferritin, heavy polypeptide 1 1.15198
SHB Src homology 2 domain containing adaptor protein B 1.13374
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 1.10973
SPTB spectrin, beta, erythrocytic 1.04462
HBG1 hemoglobin, gamma A 1.04251
HP haptoglobin 1.02777
HPR haptoglobin-related protein 1.02102
BLVRB biliverdin reductase B 0.900746
PKLR pyruvate kinase, liver and RBC 0.855677
TF transferrin 0.843392
SOX6 SRY (sex determining region Y)-box 6 0.798692
SSFA2 sperm specific antigen 2 0.795411
PKM pyruvate kinase, muscle 0.784345
GSR glutathione reductase 0.749237
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 0.72127
TFRC transferrin receptor 0.695504
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.690293
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.686291
MYB v-myb avian myeloblastosis viral oncogene homolog 0.664372
CD34 CD34 molecule 0.64577
MUSTN1 musculoskeletal, embryonic nuclear protein 1 0.641827
PPP1R15B protein phosphatase 1, regulatory subunit 15B 0.593285
HLA-C major histocompatibility complex, class I, C 0.592895
GATA1 GATA binding protein 1 (globin transcription factor 1) 0.578494
AADAC arylacetamide deacetylase 0.578494
LIN37 lin-37 DREAM MuvB core complex component 0.575383
RHBDF1 rhomboid 5 homolog 1 (Drosophila) 0.573828
CAT catalase 0.54393
CYGB cytoglobin 0.541605
HPX hemopexin 0.539667
HBZ hemoglobin, zeta 0.535022
EPO erythropoietin 0.525746
GH2 growth hormone 2 0.520731
ZNF274 zinc finger protein 274 0.513033
ANK1 ankyrin 1, erythrocytic 0.50459
HBQ1 hemoglobin, theta 1 0.498085
GPX5 glutathione peroxidase 5 0.493122
COG8 component of oligomeric golgi complex 8 0.49274
GPX4 glutathione peroxidase 4 0.490072
SLC35G5 solute carrier family 35, member G5 0.488549
GGT6 gamma-glutamyltransferase 6 0.485885
EPOR erythropoietin receptor 0.484744
PGBD1 piggyBac transposable element derived 1 0.481705
CSNK2A2 casein kinase 2, alpha prime polypeptide 0.479427
GPX1 glutathione peroxidase 1 0.474498
GGTLC1 gamma-glutamyltransferase light chain 1 0.474498
LCTL lactase-like 0.470332
KEL Kell blood group, metallo-endopeptidase 0.465038
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 0.452962
ACIN1 apoptotic chromatin condensation inducer 1 0.442795
DNMT1 DNA (cytosine-5-)-methyltransferase 1 0.439786
CIC capicua transcriptional repressor 0.433021
DOCK2 dedicator of cytokinesis 2 0.43227
GGT5 gamma-glutamyltransferase 5 0.42814
ALB albumin 0.42214
SOD2 superoxide dismutase 2, mitochondrial 0.410161
CD37 CD37 molecule 0.403064
PDE7B phosphodiesterase 7B 0.402692
GGT7 gamma-glutamyltransferase 7 0.401199
HDAC9 histone deacetylase 9 0.399707
MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F 0.379256
OR3A1 olfactory receptor, family 3, subfamily A, member 1 0.364824
SPTA1 spectrin, alpha, erythrocytic 1 0.362239
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 0.350452
OPLAH 5-oxoprolinase (ATP-hydrolysing) 0.342372
GBA2 glucosidase, beta (bile acid) 2 0.340539
CP ceruloplasmin (ferroxidase) 0.332121
RHD Rh blood group, D antigen 0.331025
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 0.329565
NPR1 natriuretic peptide receptor 1 0.324823
GUCY2C guanylate cyclase 2C 0.324094
MB myoglobin 0.32373
SORD sorbitol dehydrogenase 0.317182
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 0.316092
IGKV1D-42 immunoglobulin kappa variable 1D-42 (non-functional) 0.315366
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 0.307395
FOXG1 forkhead box G1 0.293694
F2 coagulation factor II (thrombin) 0.28616
BATF2 basic leucine zipper transcription factor, ATF-like 2 0.281153
FABP9 fatty acid binding protein 9, testis 0.279367
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 0.269398
RREB1 ras responsive element binding protein 1 0.256299
FKBP4 FK506 binding protein 4, 59kDa 0.254536
A1BG alpha-1-B glycoprotein 0.254183
SYCN syncollin 0.25207
LBR lamin B receptor 0.250663
KAT6A K(lysine) acetyltransferase 6A 0.248554
PROS1 protein S (alpha) 0.248554
RHCE Rh blood group, CcEe antigens 0.243645
SCAND1 SCAN domain containing 1 0.241196
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 0.238403
CES2 carboxylesterase 2 0.232142
SCARB2 scavenger receptor class B, member 2 0.228333
DFFA DNA fragmentation factor, 45kDa, alpha polypeptide 0.227642
AHSP alpha hemoglobin stabilizing protein 0.219398
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 0.215653
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 0.215314
CD36 CD36 molecule (thrombospondin receptor) 0.213959
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.209583
ZC3H12D zinc finger CCCH-type containing 12D 0.203933
CD79A CD79a molecule, immunoglobulin-associated alpha 0.199356
F10 coagulation factor X 0.1936
PHF12 PHD finger protein 12 0.188326
PPAN peter pan homolog (Drosophila) 0.187113
GSTA1 glutathione S-transferase alpha 1 0.183835
TST thiosulfate sulfurtransferase (rhodanese) 0.179802
SCARB1 scavenger receptor class B, member 1 0.179802
POLL polymerase (DNA directed), lambda 0.164571
HAMP hepcidin antimicrobial peptide 0.163938
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 0.163111
CRP C-reactive protein, pentraxin-related 0.158434
F8 coagulation factor VIII, procoagulant component 0.158266
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 0.142014
CAST calpastatin 0.140403
ECI1 enoyl-CoA delta isomerase 1 0.139589
RBM23 RNA binding motif protein 23 0.139115
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.13649
SRSF1 serine/arginine-rich splicing factor 1 0.135301
PPIG peptidylprolyl isomerase G (cyclophilin G) 0.133298
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 0.132703
SIX5 SIX homeobox 5 0.132529
CES1 carboxylesterase 1 0.131919
ASPN asporin 0.131159
HSPA1B heat shock 70kDa protein 1B 0.131013
LAP3 leucine aminopeptidase 3 0.130635
G6PC glucose-6-phosphatase, catalytic subunit 0.129653
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) 0.129248
CSF3 colony stimulating factor 3 (granulocyte) 0.129028
HGD homogentisate 1,2-dioxygenase 0.128371
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.127921
ALAD aminolevulinate dehydratase 0.126868
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 0.126631
EPGN epithelial mitogen 0.126035
HSPB1 heat shock 27kDa protein 1 0.125614
APEH acylaminoacyl-peptide hydrolase 0.124737
MARS methionyl-tRNA synthetase 0.12387
GAS6 growth arrest-specific 6 0.123549
GSTA3 glutathione S-transferase alpha 3 0.122447
GSTA2 glutathione S-transferase alpha 2 0.122308
GSTA4 glutathione S-transferase alpha 4 0.122203
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 0.120255
PAX7 paired box 7 0.118187