acute leukemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. (Human Disease Ontology, DOID_12603)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002488
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Genes

67 genes associated with the acute leukemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAX BCL2-associated X protein
BCR breakpoint cluster region
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CALR calreticulin
CBFB core-binding factor, beta subunit
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEP57 centrosomal protein 57kDa
CHEK2 checkpoint kinase 2
DKC1 dyskeratosis congenita 1, dyskerin
ELANE elastase, neutrophil expressed
ETV6 ets variant 6
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FLT3 fms-related tyrosine kinase 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GFI1 growth factor independent 1 transcription repressor
GMPS guanine monphosphate synthase
JAK2 Janus kinase 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
LIG4 ligase IV, DNA, ATP-dependent
LPP LIM domain containing preferred translocation partner in lipoma
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MLF1 myeloid leukemia factor 1
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
MPL MPL proto-oncogene, thrombopoietin receptor
MYB v-myb avian myeloblastosis viral oncogene homolog
NBN nibrin
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NSD1 nuclear receptor binding SET domain protein 1
NUP214 nucleoporin 214kDa
PBX1 pre-B-cell leukemia homeobox 1
PICALM phosphatidylinositol binding clathrin assembly protein
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
RARA retinoic acid receptor, alpha
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
RUNX1 runt-related transcription factor 1
SBDS Shwachman-Bodian-Diamond syndrome
SH2B3 SH2B adaptor protein 3
SH3GL1 SH3-domain GRB2-like 1
STS steroid sulfatase (microsomal), isozyme S
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
TLX1 T-cell leukemia homeobox 1
TP53 tumor protein p53
TREM2 triggering receptor expressed on myeloid cells 2
TYROBP TYRO protein tyrosine kinase binding protein
WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1