abnormal proerythroblast morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells (Mammalian Phenotype Ontology, MP_0002416)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002416
Similar Terms
Downloads & Tools

Genes

49 gene mutations causing the abnormal proerythroblast morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGO2 argonaute RISC catalytic component 2
ANK1 ankyrin 1, erythrocytic
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BLM Bloom syndrome, RecQ helicase-like
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BRD1 bromodomain containing 1
CBFB core-binding factor, beta subunit
CD59 CD59 molecule, complement regulatory protein
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
COL10A1 collagen, type X, alpha 1
CXCL12 chemokine (C-X-C motif) ligand 12
DCC DCC netrin 1 receptor
DIAPH3 diaphanous-related formin 3
DIDO1 death inducer-obliterator 1
E2F4 E2F transcription factor 4, p107/p130-binding
EPOR erythropoietin receptor
EXOC6 exocyst complex component 6
FBXO7 F-box protein 7
FGFRL1 fibroblast growth factor receptor-like 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL2RG interleukin 2 receptor, gamma
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KMT2A lysine (K)-specific methyltransferase 2A
LCN2 lipocalin 2
LIG4 ligase IV, DNA, ATP-dependent
LYN LYN proto-oncogene, Src family tyrosine kinase
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PDGFB platelet-derived growth factor beta polypeptide
PKLR pyruvate kinase, liver and RBC
PLCG1 phospholipase C, gamma 1
PRDX2 peroxiredoxin 2
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SAMD9L sterile alpha motif domain containing 9-like
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SMAP1 small ArfGAP 1
SPI1 Spi-1 proto-oncogene
SPTA1 spectrin, alpha, erythrocytic 1
TDP2 tyrosyl-DNA phosphodiesterase 2
TMOD3 tropomodulin 3 (ubiquitous)
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TTC7A tetratricopeptide repeat domain 7A
UNC93B1 unc-93 homolog B1 (C. elegans)
ZC3H12A zinc finger CCCH-type containing 12A