abnormal mean corpuscular hemoglobin Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001589
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Genes

86 gene mutations causing the abnormal mean corpuscular hemoglobin phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
ADGRF5 adhesion G protein-coupled receptor F5
AHSP alpha hemoglobin stabilizing protein
ANK1 ankyrin 1, erythrocytic
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARID4A AT rich interactive domain 4A (RBP1-like)
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BBS5 Bardet-Biedl syndrome 5
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CHSY1 chondroitin sulfate synthase 1
CLEC10A C-type lectin domain family 10, member A
CLK1 CDC-like kinase 1
COL4A5 collagen, type IV, alpha 5
DBN1 drebrin 1
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila)
DKK3 dickkopf WNT signaling pathway inhibitor 3
DLG4 discs, large homolog 4 (Drosophila)
EHD1 EH-domain containing 1
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ELMO1 engulfment and cell motility 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPB41 erythrocyte membrane protein band 4.1
EPS15 epidermal growth factor receptor pathway substrate 15
EXOC6 exocyst complex component 6
FAM132B family with sequence similarity 132, member B
FAM134C family with sequence similarity 134, member C
FAM53B family with sequence similarity 53, member B
FAM63A family with sequence similarity 63, member A
FOXO3 forkhead box O3
G6PD glucose-6-phosphate dehydrogenase
GALC galactosylceramidase
GHRHR growth hormone releasing hormone receptor
GPI glucose-6-phosphate isomerase
GTPBP2 GTP binding protein 2
HBA1 hemoglobin, alpha 1
HBZ hemoglobin, zeta
HEPH hephaestin
HK1 hexokinase 1
IL2 interleukin 2
IREB2 iron-responsive element binding protein 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KDM4C lysine (K)-specific demethylase 4C
KEL Kell blood group, metallo-endopeptidase
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KLF13 Kruppel-like factor 13
LCN2 lipocalin 2
LGMN legumain
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MIR144 microRNA 144
MIR451A microRNA 451a
MYO1C myosin IC
MYSM1 Myb-like, SWIRM and MPN domains 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NPTN neuroplastin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PICALM phosphatidylinositol binding clathrin assembly protein
PPP1R15A protein phosphatase 1, regulatory subunit 15A
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
RAB5C RAB5C, member RAS oncogene family
RASA3 RAS p21 protein activator 3
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RNF10 ring finger protein 10
SCARF2 scavenger receptor class F, member 2
SETMAR SET domain and mariner transposase fusion gene
SKIDA1 SKI/DACH domain containing 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
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
STEAP3 STEAP family member 3, metalloreductase
STK16 serine/threonine kinase 16
TFRC transferrin receptor
USP21 ubiquitin specific peptidase 21
USP3 ubiquitin specific peptidase 3
XBP1 X-box binding protein 1