beta-Thalassemia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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

60 genes associated with the beta-Thalassemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AHSP alpha hemoglobin stabilizing protein
APOB apolipoprotein B
APOE apolipoprotein E
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
COL1A1 collagen, type I, alpha 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
ESR1 estrogen receptor 1
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGB fibrinogen beta chain
G6PD glucose-6-phosphate dehydrogenase
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBBP1 hemoglobin, beta pseudogene 1
HBE1 hemoglobin, epsilon 1
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBS1L HBS1-like translational GTPase
HFE hemochromatosis
HLA-C major histocompatibility complex, class I, C
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-G major histocompatibility complex, class I, G
IFNG interferon, gamma
IFNL3 interferon, lambda 3
IL10 interleukin 10
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KLF1 Kruppel-like factor 1 (erythroid)
KLF10 Kruppel-like factor 10
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYB v-myb avian myeloblastosis viral oncogene homolog
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
OR51B5 olfactory receptor, family 51, subfamily B, member 5
OR51B6 olfactory receptor, family 51, subfamily B, member 6
PDE7B phosphodiesterase 7B
PON1 paraoxonase 1
PPARG peroxisome proliferator-activated receptor gamma
PROCR protein C receptor, endothelial
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
ZHX2 zinc fingers and homeoboxes 2