leukemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. (Experimental Factor Ontology, EFO_0000565)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001909
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Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ARHGAP26 Rho GTPase activating protein 26
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAX BCL2-associated X protein
BCL3 B-cell CLL/lymphoma 3
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
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEP57 centrosomal protein 57kDa
CES1 carboxylesterase 1
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
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCG Fanconi anemia, complementation group G
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
HAX1 HCLS1 associated protein X-1
IGHV4-34 immunoglobulin heavy variable 4-34
JAK2 Janus kinase 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LPP LIM domain containing preferred translocation partner in lipoma
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MLF1 myeloid leukemia factor 1
MLH1 mutL homolog 1
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MYB v-myb avian myeloblastosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
NBN nibrin
NF1 neurofibromin 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NUP214 nucleoporin 214kDa
PBX1 pre-B-cell leukemia homeobox 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PICALM phosphatidylinositol binding clathrin assembly protein
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARA retinoic acid receptor, alpha
RB1 retinoblastoma 1
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
SCN9A sodium channel, voltage gated, type IX alpha subunit
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
WAS Wiskott-Aldrich syndrome
WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1
WIPF1 WAS/WASL interacting protein family, member 1