decreased hematocrit Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description less than the average percentage of a volume of a blood sample occupied by red blood cells (Mammalian Phenotype Ontology, MP_0000208)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000208
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Genes

152 gene mutations causing the decreased hematocrit phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACE angiotensin I converting enzyme
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
ADGRF5 adhesion G protein-coupled receptor F5
AHSP alpha hemoglobin stabilizing protein
ANK1 ankyrin 1, erythrocytic
APC adenomatous polyposis coli
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
ATF4 activating transcription factor 4
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG1 BCL2-associated athanogene
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BTK Bruton agammaglobulinemia tyrosine kinase
CBY1 chibby homolog 1 (Drosophila)
CCBE1 collagen and calcium binding EGF domains 1
CD47 CD47 molecule
CD59 CD59 molecule, complement regulatory protein
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CIAPIN1 cytokine induced apoptosis inhibitor 1
CLEC1B C-type lectin domain family 1, member B
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A5 collagen, type IV, alpha 5
CRTC1 CREB regulated transcription coactivator 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYS1 cystin 1
DAP death-associated protein
DCC DCC netrin 1 receptor
DMTN dematin actin binding protein
DPY19L3 dpy-19-like 3 (C. elegans)
E2F4 E2F transcription factor 4, p107/p130-binding
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
EXOC6 exocyst complex component 6
F9 coagulation factor IX
FAM132B family with sequence similarity 132, member B
FAM63A family with sequence similarity 63, member A
FBLN1 fibulin 1
FBXO7 F-box protein 7
FECH ferrochelatase
FGFRL1 fibroblast growth factor receptor-like 1
FGG fibrinogen gamma chain
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXP3 forkhead box P3
FRZB frizzled-related protein
GATA1 GATA binding protein 1 (globin transcription factor 1)
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GPI glucose-6-phosphate isomerase
GRHL3 grainyhead-like 3 (Drosophila)
GSTA3 glutathione S-transferase alpha 3
HEPH hephaestin
HK1 hexokinase 1
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IFT20 intraflagellar transport 20
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
INHBA inhibin, beta A
IREB2 iron-responsive element binding protein 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JMJD6 jumonji domain containing 6
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KDM4C lysine (K)-specific demethylase 4C
KDM8 lysine (K)-specific demethylase 8
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KMT2E lysine (K)-specific methyltransferase 2E
LAMA4 laminin, alpha 4
LDHA lactate dehydrogenase A
LGMN legumain
LHX2 LIM homeobox 2
LIG1 ligase I, DNA, ATP-dependent
MECOM MDS1 and EVI1 complex locus
MIR144 microRNA 144
MIR451A microRNA 451a
MPL MPL proto-oncogene, thrombopoietin receptor
MTUS1 microtubule associated tumor suppressor 1
MUC2 mucin 2, oligomeric mucus/gel-forming
MYB v-myb avian myeloblastosis viral oncogene homolog
MYO1E myosin IE
MYSM1 Myb-like, SWIRM and MPN domains 1
NCKAP1L NCK-associated protein 1-like
NCOR1 nuclear receptor corepressor 1
NFE2L1 nuclear factor, erythroid 2-like 1
NFE2L2 nuclear factor, erythroid 2-like 2
NPPA natriuretic peptide A
NR1D2 nuclear receptor subfamily 1, group D, member 2
OSMR oncostatin M receptor
PBX1 pre-B-cell leukemia homeobox 1
PDGFB platelet-derived growth factor beta polypeptide
PFKM phosphofructokinase, muscle
PGM3 phosphoglucomutase 3
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKLR pyruvate kinase, liver and RBC
PKNOX1 PBX/knotted 1 homeobox 1
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-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
REN renin
RIC1 RAB6A GEF complex partner 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SGPL1 sphingosine-1-phosphate lyase 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC38A10 solute carrier family 38, member 10
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SOCS1 suppressor of cytokine signaling 1
SOD2 superoxide dismutase 2, mitochondrial
SPI1 Spi-1 proto-oncogene
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SRSF4 serine/arginine-rich splicing factor 4
STARD13 StAR-related lipid transfer (START) domain containing 13
STEAP3 STEAP family member 3, metalloreductase
SYTL1 synaptotagmin-like 1
TAL1 T-cell acute lymphocytic leukemia 1
TF transferrin
TG thyroglobulin
TGM2 transglutaminase 2
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM189 transmembrane protein 189
TMPRSS6 transmembrane protease, serine 6
TNIP1 TNFAIP3 interacting protein 1
TNS2 tensin 2
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPO thyroid peroxidase
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
USP3 ubiquitin specific peptidase 3
XBP1 X-box binding protein 1
ZC3H12A zinc finger CCCH-type containing 12A
ZFP36L2 ZFP36 ring finger protein-like 2