abnormal reticulocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus (Mammalian Phenotype Ontology, MP_0002424)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002424
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76 gene mutations causing the abnormal reticulocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
AHSP alpha hemoglobin stabilizing protein
ANK1 ankyrin 1, erythrocytic
ATAD5 ATPase family, AAA domain containing 5
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BLM Bloom syndrome, RecQ helicase-like
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CD47 CD47 molecule
CD59 CD59 molecule, complement regulatory protein
CDK5RAP2 CDK5 regulatory subunit associated protein 2
DCK deoxycytidine kinase
DMTN dematin actin binding protein
E2F4 E2F transcription factor 4, p107/p130-binding
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EXOC6 exocyst complex component 6
FECH ferrochelatase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
GPI glucose-6-phosphate isomerase
GPRC5C G protein-coupled receptor, class C, group 5, member C
HBA1 hemoglobin, alpha 1
HK1 hexokinase 1
HYAL2 hyaluronoglucosaminidase 2
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL2 interleukin 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KEL Kell blood group, metallo-endopeptidase
KITLG KIT ligand
KLF3 Kruppel-like factor 3 (basic)
LAMA4 laminin, alpha 4
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LGMN legumain
LIG1 ligase I, DNA, ATP-dependent
MAN2A1 mannosidase, alpha, class 2A, member 1
MCM4 minichromosome maintenance complex component 4
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR144 microRNA 144
MIR451A microRNA 451a
MYB v-myb avian myeloblastosis viral oncogene homolog
MYO1E myosin IE
NCKAP1L NCK-associated protein 1-like
NFE2L2 nuclear factor, erythroid 2-like 2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PFKM phosphofructokinase, muscle
PKLR pyruvate kinase, liver and RBC
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKG1 protein kinase, cGMP-dependent, type I
PURA purine-rich element binding protein A
RASA3 RAS p21 protein activator 3
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
SGPL1 sphingosine-1-phosphate lyase 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SMAP1 small ArfGAP 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STEAP3 STEAP family member 3, metalloreductase
TF transferrin
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
ULK1 unc-51 like autophagy activating kinase 1
UROS uroporphyrinogen III synthase
ZFPM1 zinc finger protein, FOG family member 1