anemia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. (Human Disease Ontology, DOID_2355)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001577
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Genes

246 gene mutations causing the anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
AGR2 anterior gradient 2
AHSP alpha hemoglobin stabilizing protein
ALAS2 5'-aminolevulinate synthase 2
ALOX15 arachidonate 15-lipoxygenase
ANK1 ankyrin 1, erythrocytic
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APC adenomatous polyposis coli
ARF6 ADP-ribosylation factor 6
ARHGAP1 Rho GTPase activating protein 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATF4 activating transcription factor 4
ATP11C ATPase, class VI, type 11C
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BIN3 bridging integrator 3
BLM Bloom syndrome, RecQ helicase-like
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BRD1 bromodomain containing 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C1QBP complement component 1, q subcomponent binding protein
C3 complement component 3
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CBY1 chibby homolog 1 (Drosophila)
CCBE1 collagen and calcium binding EGF domains 1
CCNE1 cyclin E1
CD47 CD47 molecule
CD59 CD59 molecule, complement regulatory protein
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CLEC1B C-type lectin domain family 1, member B
COL4A1 collagen, type IV, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CP ceruloplasmin (ferroxidase)
CREBBP CREB binding protein
CTSG cathepsin G
DAP3 death associated protein 3
DIAPH1 diaphanous-related formin 1
DIDO1 death inducer-obliterator 1
DKC1 dyskeratosis congenita 1, dyskerin
DMTN dematin actin binding protein
DNASE2 deoxyribonuclease II, lysosomal
E2F4 E2F transcription factor 4, p107/p130-binding
EDARADD EDAR-associated death domain
EGR1 early growth response 1
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
ENG endoglin
EP300 E1A binding protein p300
EP400 E1A binding protein p400
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EPO erythropoietin
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ERF Ets2 repressor factor
ESR2 estrogen receptor 2 (ER beta)
EXOC6 exocyst complex component 6
FASLG Fas ligand (TNF superfamily, member 6)
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FECH ferrochelatase
FERMT3 fermitin family member 3
FGFRL1 fibroblast growth factor receptor-like 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FN1 fibronectin 1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GPC4 glypican 4
HBA1 hemoglobin, alpha 1
HBZ hemoglobin, zeta
HEPH hephaestin
HK1 hexokinase 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLX H2.0-like homeobox
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HYAL2 hyaluronoglucosaminidase 2
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL6ST interleukin 6 signal transducer
INHA inhibin, alpha
INHBA inhibin, beta A
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JARID2 jumonji, AT rich interactive domain 2
KDM6A lysine (K)-specific demethylase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KLF2 Kruppel-like factor 2
KLF3 Kruppel-like factor 3 (basic)
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
L3MBTL3 l(3)mbt-like 3 (Drosophila)
LAMA4 laminin, alpha 4
LAT linker for activation of T cells
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LGMN legumain
LHX2 LIM homeobox 2
LIG1 ligase I, DNA, ATP-dependent
LYN LYN proto-oncogene, Src family tyrosine kinase
MAN2A1 mannosidase, alpha, class 2A, member 1
MAP2K4 mitogen-activated protein kinase kinase 4
MAPK14 mitogen-activated protein kinase 14
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED24 mediator complex subunit 24
MED30 mediator complex subunit 30
MEFV Mediterranean fever
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR144 microRNA 144
MIR451A microRNA 451a
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MTUS1 microtubule associated tumor suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYO1E myosin IE
NCKAP1L NCK-associated protein 1-like
NCOR1 nuclear receptor corepressor 1
NEK1 NIMA-related kinase 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2 nuclear factor, erythroid 2
NFE2L1 nuclear factor, erythroid 2-like 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NOTCH1 notch 1
NPHP3 nephronophthisis 3 (adolescent)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
OSMR oncostatin M receptor
PBX1 pre-B-cell leukemia homeobox 1
PDCD10 programmed cell death 10
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGM3 phosphoglucomutase 3
PICALM phosphatidylinositol binding clathrin assembly protein
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PKLR pyruvate kinase, liver and RBC
PKNOX1 PBX/knotted 1 homeobox 1
PLVAP plasmalemma vesicle associated protein
POLG polymerase (DNA directed), gamma
POU2F1 POU class 2 homeobox 1
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKG1 protein kinase, cGMP-dependent, type I
PTCH2 patched 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RAD50 RAD50 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA3 RAS p21 protein activator 3
RB1 retinoblastoma 1
RC3H1 ring finger and CCCH-type domains 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
SAMD9L sterile alpha motif domain containing 9-like
SAP30BP SAP30 binding protein
SCARB1 scavenger receptor class B, member 1
SCIMP SLP adaptor and CSK interacting membrane protein
SENP1 SUMO1/sentrin specific peptidase 1
SGPL1 sphingosine-1-phosphate lyase 1
SH2B3 SH2B adaptor protein 3
SIPA1 signal-induced proliferation-associated 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SOD2 superoxide dismutase 2, mitochondrial
SPI1 Spi-1 proto-oncogene
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SSBP2 single-stranded DNA binding protein 2
STEAP3 STEAP family member 3, metalloreductase
SYMPK symplekin
TAL1 T-cell acute lymphocytic leukemia 1
TAPT1 transmembrane anterior posterior transformation 1
TCEA1 transcription elongation factor A (SII), 1
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TFR2 transferrin receptor 2
TFRC transferrin receptor
TG thyroglobulin
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM14C transmembrane protein 14C
TMOD1 tropomodulin 1
TMOD3 tropomodulin 3 (ubiquitous)
TMPRSS6 transmembrane protease, serine 6
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNIP1 TNFAIP3 interacting protein 1
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSHR thyroid stimulating hormone receptor
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
TULP3 tubby like protein 3
TXNRD2 thioredoxin reductase 2
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
UROS uroporphyrinogen III synthase
USP18 ubiquitin specific peptidase 18
WDR1 WD repeat domain 1
WWOX WW domain containing oxidoreductase
XBP1 X-box binding protein 1
XPA xeroderma pigmentosum, complementation group A
ZC3H12A zinc finger CCCH-type containing 12A
ZFP36L1 ZFP36 ring finger protein-like 1
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1