Thalassemia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_10241)
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Genes

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

Symbol Name
AQP1 aquaporin 1 (Colton blood group)
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
COL1A1 collagen, type I, alpha 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
F13A1 coagulation factor XIII, A1 polypeptide
F5 coagulation factor V (proaccelerin, labile factor)
G6PD glucose-6-phosphate dehydrogenase
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBE1 hemoglobin, epsilon 1
HBG2 hemoglobin, gamma G
HBS1L HBS1-like translational GTPase
HFE hemochromatosis
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-G major histocompatibility complex, class I, G
ITGAV integrin, alpha V
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
MYB v-myb avian myeloblastosis viral oncogene homolog
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
TGFBR3 transforming growth factor, beta receptor III
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor