hereditary elliptocytosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (Human Disease Ontology, DOID_2373)
Similar Terms
Downloads & Tools


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

Symbol Name Standardized Value
EPB41 erythrocyte membrane protein band 4.1 2.86925
SPTB spectrin, beta, erythrocytic 2.54238
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 2.51573
SPTA1 spectrin, alpha, erythrocytic 1 2.40054
ANK1 ankyrin 1, erythrocytic 1.89036
GYPC glycophorin C (Gerbich blood group) 1.88067
OSGEP O-sialoglycoprotein endopeptidase 1.76139
EPB42 erythrocyte membrane protein band 4.2 1.53789
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 1.22128
SLC4A2 solute carrier family 4 (anion exchanger), member 2 1.13416
RHAG Rh-associated glycoprotein 0.997814
EPB41L1 erythrocyte membrane protein band 4.1-like 1 0.868368
DMTN dematin actin binding protein 0.819616
SPO11 SPO11 meiotic protein covalently bound to DSB 0.817565
HBE1 hemoglobin, epsilon 1 0.795821
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0.783116
G6PD glucose-6-phosphate dehydrogenase 0.76431
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) 0.743547
WRB tryptophan rich basic protein 0.718846
HAGH hydroxyacylglutathione hydrolase 0.687891
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.659215
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 0.642615
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 0.622183
CANX calnexin 0.617877
ADD3 adducin 3 (gamma) 0.594843
DNM2 dynamin 2 0.592506
GUK1 guanylate kinase 1 0.571107
PKLR pyruvate kinase, liver and RBC 0.560227
ADD2 adducin 2 (beta) 0.55518
PYCARD PYD and CARD domain containing 0.52536
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.495411
PKM pyruvate kinase, muscle 0.493122
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.484744
SZRD1 SUZ RNA binding domain containing 1 0.449571
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 0.418019
CSN1S1 casein alpha s1 0.374068
GYPA glycophorin A (MNS blood group) 0.364085
SLC26A3 solute carrier family 26 (anion exchanger), member 3 0.359289
HBA1 hemoglobin, alpha 1 0.318635
HBA2 hemoglobin, alpha 2 0.298011
ADD1 adducin 1 (alpha) 0.291539
WFDC2 WAP four-disulfide core domain 2 0.266203
CD47 CD47 molecule 0.264785
SCARB2 scavenger receptor class B, member 2 0.259477
CD36 CD36 molecule (thrombospondin receptor) 0.244696
RHCE Rh blood group, CcEe antigens 0.242945
GYPE glycophorin E (MNS blood group) 0.242595
CORT cortistatin 0.223165
LATS1 large tumor suppressor kinase 1 0.215314
SCARB1 scavenger receptor class B, member 1 0.207578
PLEK pleckstrin 0.201308
AQP1 aquaporin 1 (Colton blood group) 0.200656
C1QBP complement component 1, q subcomponent binding protein 0.187113