Spherocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of erythrocytes that are sphere-shaped. (Human Phenotype Ontology, HP_0004444)
External Link https://www.disgenet.org/browser/0/1/0/C0553720
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Genes

57 genes associated with the disease Spherocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ACE angiotensin I converting enzyme
ADD2 adducin 2 (beta)
ANK1 ankyrin 1, erythrocytic
BBC3 BCL2 binding component 3
BDNF brain-derived neurotrophic factor
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CCL3 chemokine (C-C motif) ligand 3
CREBBP CREB binding protein
CSF1 colony stimulating factor 1 (macrophage)
DUSP22 dual specificity phosphatase 22
EGFR epidermal growth factor receptor
EIF4E eukaryotic translation initiation factor 4E
EPB42 erythrocyte membrane protein band 4.2
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GATA1 GATA binding protein 1 (globin transcription factor 1)
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
HCRT hypocretin (orexin) neuropeptide precursor
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
IL1B interleukin 1, beta
IL25 interleukin 25
IL6 interleukin 6
IVL involucrin
KRT1 keratin 1, type II
MAPK3 mitogen-activated protein kinase 3
MARCKSL1 MARCKS-like 1
MC4R melanocortin 4 receptor
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MYDGF myeloid-derived growth factor
NFE2L2 nuclear factor, erythroid 2-like 2
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PCBP4 poly(rC) binding protein 4
PDE5A phosphodiesterase 5A, cGMP-specific
PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
S100A8 S100 calcium binding protein A8
SIRT3 sirtuin 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SOD2 superoxide dismutase 2, mitochondrial
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
TLR5 toll-like receptor 5
TNF tumor necrosis factor
TP53 tumor protein p53
WLS wntless Wnt ligand secretion mediator