hereditary spherocytosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (Human Disease Ontology, DOID_12971)
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Genes

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

Symbol Name Standardized Value
ANK1 ankyrin 1, erythrocytic 2.92284
SPTB spectrin, beta, erythrocytic 2.40931
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 2.35976
EPB41 erythrocyte membrane protein band 4.1 2.17022
EPB42 erythrocyte membrane protein band 4.2 1.92623
SPTA1 spectrin, alpha, erythrocytic 1 1.70451
PKLR pyruvate kinase, liver and RBC 1.4588
RHAG Rh-associated glycoprotein 1.44386
DMTN dematin actin binding protein 1.33763
PKM pyruvate kinase, muscle 1.31319
TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 1.22388
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 1.21652
CD47 CD47 molecule 1.21045
KCTD6 potassium channel tetramerization domain containing 6 1.19445
GYPC glycophorin C (Gerbich blood group) 1.11645
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1.10343
ANK2 ankyrin 2, neuronal 1.08789
ADD3 adducin 3 (gamma) 1.0837
OSGEP O-sialoglycoprotein endopeptidase 1.08244
ADD2 adducin 2 (beta) 1.01596
DNM2 dynamin 2 1.00668
STOM stomatin 0.987693
PRDX2 peroxiredoxin 2 0.944106
EMC10 ER membrane protein complex subunit 10 0.928759
ANXA7 annexin A7 0.924626
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 0.915551
ICMT isoprenylcysteine carboxyl methyltransferase 0.912257
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 0.86018
SEC23B Sec23 homolog B (S. cerevisiae) 0.856905
SLC26A8 solute carrier family 26 (anion exchanger), member 8 0.85404
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 0.849945
GYPA glycophorin A (MNS blood group) 0.831508
HP haptoglobin 0.796232
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 0.789262
HPR haptoglobin-related protein 0.789262
SLC26A7 solute carrier family 26 (anion exchanger), member 7 0.783936
PRKG1 protein kinase, cGMP-dependent, type I 0.781479
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 0.767985
ADD1 adducin 1 (alpha) 0.75005
G6PD glucose-6-phosphate dehydrogenase 0.698715
FTL ferritin, light polypeptide 0.681894
FTH1 ferritin, heavy polypeptide 1 0.681894
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.672722
SLC4A3 solute carrier family 4 (anion exchanger), member 3 0.657234
GAPDH glyceraldehyde-3-phosphate dehydrogenase 0.654067
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0.641827
RPIA ribose 5-phosphate isomerase A 0.616703
TFRC transferrin receptor 0.585887
WRB tryptophan rich basic protein 0.579661
JAK3 Janus kinase 3 0.544705
LAMA5 laminin, alpha 5 0.541992
ETHE1 ethylmalonic encephalopathy 1 0.52729
HBB hemoglobin, beta 0.521502
KL klotho 0.505356
MBD1 methyl-CpG binding domain protein 1 0.449947
KLF1 Kruppel-like factor 1 (erythroid) 0.42664
TRPC6 transient receptor potential cation channel, subfamily C, member 6 0.407919
BCAM basal cell adhesion molecule (Lutheran blood group) 0.39598
HFE hemochromatosis 0.392629
BPGM 2,3-bisphosphoglycerate mutase 0.387423
PGAM2 phosphoglycerate mutase 2 (muscle) 0.384822
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 0.383708
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 0.346777
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.344207
CYS1 cystin 1 0.338341
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 0.331391
AK1 adenylate kinase 1 0.330295
PGAM1 phosphoglycerate mutase 1 (brain) 0.328834
RIPK4 receptor-interacting serine-threonine kinase 4 0.316819
ACP1 acid phosphatase 1, soluble 0.316456
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 0.311014
CUL3 cullin 3 0.301976
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 0.286877
ASPN asporin 0.283655
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 0.279367
ACHE acetylcholinesterase (Yt blood group) 0.229716
UMPS uridine monophosphate synthetase 0.208245
HBA1 hemoglobin, alpha 1 0.202946
COG2 component of oligomeric golgi complex 2 0.194232
HBA2 hemoglobin, alpha 2 0.18472
PTAFR platelet-activating factor receptor 0.17952
TF transferrin 0.165435
SRI sorcin 0.162306