increased mean corpuscular volume Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Larger than normal size of erythrocytes. (Human Phenotype Ontology, HP_0005518)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002590
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Genes

77 gene mutations causing the increased mean corpuscular volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AMPD3 adenosine monophosphate deaminase 3
ARCN1 archain 1
ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa
BBS5 Bardet-Biedl syndrome 5
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
C14ORF119 chromosome 14 open reading frame 119
CBX6 chromobox homolog 6
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDK6 cyclin-dependent kinase 6
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLEC10A C-type lectin domain family 10, member A
CLSTN1 calsyntenin 1
CPSF3 cleavage and polyadenylation specific factor 3, 73kDa
DKK3 dickkopf WNT signaling pathway inhibitor 3
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ELMO1 engulfment and cell motility 1
ELMOD1 ELMO/CED-12 domain containing 1
ESYT3 extended synaptotagmin-like protein 3
EXOC6 exocyst complex component 6
FAM117B family with sequence similarity 117, member B
FAM134C family with sequence similarity 134, member C
FAM53B family with sequence similarity 53, member B
FANCA Fanconi anemia, complementation group A
FBXO7 F-box protein 7
FOXO3 forkhead box O3
FOXP3 forkhead box P3
GNAS GNAS complex locus
GPI glucose-6-phosphate isomerase
GPRC5C G protein-coupled receptor, class C, group 5, member C
HK1 hexokinase 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KEL Kell blood group, metallo-endopeptidase
KIAA0195 KIAA0195
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF13 Kruppel-like factor 13
L3MBTL2 l(3)mbt-like 2 (Drosophila)
LDHA lactate dehydrogenase A
LMO2 LIM domain only 2 (rhombotin-like 1)
MED18 mediator complex subunit 18
METTL24 methyltransferase like 24
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MTRF1 mitochondrial translational release factor 1
MYO1C myosin IC
MYSM1 Myb-like, SWIRM and MPN domains 1
NGFR nerve growth factor receptor
NIPSNAP1 nipsnap homolog 1 (C. elegans)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPTN neuroplastin
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PKLR pyruvate kinase, liver and RBC
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRKG1 protein kinase, cGMP-dependent, type I
RANBP10 RAN binding protein 10
RPS7 ribosomal protein S7
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
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)
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SPTA1 spectrin, alpha, erythrocytic 1
TBC1D2B TBC1 domain family, member 2B
TCHP trichoplein, keratin filament binding
TPI1 triosephosphate isomerase 1
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
ULK1 unc-51 like autophagy activating kinase 1
USHBP1 Usher syndrome 1C binding protein 1
VNN1 vanin 1
XK X-linked Kx blood group
ZNF175 zinc finger protein 175