Elliptocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape (Mammalian Phenotype Ontology, MP_0009547)
External Link https://www.disgenet.org/browser/0/1/0/C1851741
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Genes

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

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ADD2 adducin 2 (beta)
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ASPG asparaginase
CAT catalase
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLB1 galactosidase, beta 1
GYPC glycophorin C (Gerbich blood group)
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
NHLRC2 NHL repeat containing 2
PLA1A phospholipase A1 member A
S100A9 S100 calcium binding protein A9
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1
UGT8 UDP glycosyltransferase 8