abnormal hematopoietic stem cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow, yolk sac and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages (Mammalian Phenotype Ontology, MP_0004808)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004808
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Genes

77 gene mutations causing the abnormal hematopoietic stem cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
ARHGAP1 Rho GTPase activating protein 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ARID4A AT rich interactive domain 4A (RBP1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCR breakpoint cluster region
BRD1 bromodomain containing 1
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CDK6 cyclin-dependent kinase 6
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CREBBP CREB binding protein
CSF1 colony stimulating factor 1 (macrophage)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTC1 CTS telomere maintenance complex component 1
CXCL12 chemokine (C-X-C motif) ligand 12
EGR1 early growth response 1
ELF4 E74-like factor 4 (ets domain transcription factor)
ERCC1 excision repair cross-complementation group 1
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ETV2 ets variant 2
FLT1 fms-related tyrosine kinase 1
FLT3LG fms-related tyrosine kinase 3 ligand
FOXO3 forkhead box O3
GATA2 GATA binding protein 2
GFI1 growth factor independent 1 transcription repressor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
HAX1 HCLS1 associated protein X-1
HOXA9 homeobox A9
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IL6ST interleukin 6 signal transducer
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
JAK3 Janus kinase 3
JAM2 junctional adhesion molecule 2
KAT6A K(lysine) acetyltransferase 6A
KDM5A lysine (K)-specific demethylase 5A
KIAA0101 KIAA0101
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
LIF leukemia inhibitory factor
LIG4 ligase IV, DNA, ATP-dependent
MAN2A1 mannosidase, alpha, class 2A, member 1
MATK megakaryocyte-associated tyrosine kinase
MBTD1 mbt domain containing 1
MECOM MDS1 and EVI1 complex locus
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MSI2 musashi RNA-binding protein 2
MYB v-myb avian myeloblastosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCOR2 nuclear receptor corepressor 2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
PER2 period circadian clock 2
PFKM phosphofructokinase, muscle
PHC1 polyhomeotic homolog 1 (Drosophila)
PRKDC protein kinase, DNA-activated, catalytic polypeptide
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RPL27A ribosomal protein L27a
RUNX1 runt-related transcription factor 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SH2B3 SH2B adaptor protein 3
SIPA1 signal-induced proliferation-associated 1
SOX17 SRY (sex determining region Y)-box 17
SPI1 Spi-1 proto-oncogene
SPP1 secreted phosphoprotein 1
TACC3 transforming, acidic coiled-coil containing protein 3
TAL1 T-cell acute lymphocytic leukemia 1
TCEA1 transcription elongation factor A (SII), 1
TCF3 transcription factor 3
TET2 tet methylcytosine dioxygenase 2
TP53 tumor protein p53
ZFX zinc finger protein, X-linked