abnormal embryonic hematopoiesis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages that circulate in the embryonic and extraembryonic tissues, and which occurs in blood islands in the yolk sac from E7-E11 in the mouse and through 10 weeks in humans (Mammalian Phenotype Ontology, MP_0003396)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003396
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Genes

57 gene mutations causing the abnormal embryonic hematopoiesis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
ALAS2 5'-aminolevulinate synthase 2
ARID3A AT rich interactive domain 3A (BRIGHT-like)
BIRC6 baculoviral IAP repeat containing 6
BRD1 bromodomain containing 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CDX1 caudal type homeobox 1
CDX4 caudal type homeobox 4
EBP emopamil binding protein (sterol isomerase)
ENG endoglin
EPOR erythropoietin receptor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ETV2 ets variant 2
F3 coagulation factor III (thromboplastin, tissue factor)
FEN1 flap structure-specific endonuclease 1
FLT1 fms-related tyrosine kinase 1
FOSL1 FOS-like antigen 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GFI1B growth factor independent 1B transcription repressor
HUS1 HUS1 checkpoint homolog (S. pombe)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
JAK2 Janus kinase 2
KLF1 Kruppel-like factor 1 (erythroid)
KLF6 Kruppel-like factor 6
LDB1 LIM domain binding 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMO2 LIM domain only 2 (rhombotin-like 1)
MED24 mediator complex subunit 24
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
NCOA6 nuclear receptor coactivator 6
NKX2-5 NK2 homeobox 5
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PLCG1 phospholipase C, gamma 1
POFUT2 protein O-fucosyltransferase 2
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RCOR1 REST corepressor 1
RPL38 ribosomal protein L38
RUNX1 runt-related transcription factor 1
SMAD5 SMAD family member 5
SOCS3 suppressor of cytokine signaling 3
SOX17 SRY (sex determining region Y)-box 17
TAL1 T-cell acute lymphocytic leukemia 1
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMOD1 tropomodulin 1
TSC2 tuberous sclerosis 2
UBC ubiquitin C
ZFAT zinc finger and AT hook domain containing
ZFP36L1 ZFP36 ring finger protein-like 1
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1