abnormal mean corpuscular hemoglobin concentration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices (Mammalian Phenotype Ontology, MP_0005640)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005640
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Genes

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

Symbol Name
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
ANK1 ankyrin 1, erythrocytic
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
B9D1 B9 protein domain 1
C1QBP complement component 1, q subcomponent binding protein
CAPN5 calpain 5
CDK6 cyclin-dependent kinase 6
CLK1 CDC-like kinase 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EPB42 erythrocyte membrane protein band 4.2
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
FAM63A family with sequence similarity 63, member A
FAM83G family with sequence similarity 83, member G
FBXO11 F-box protein 11
GHRHR growth hormone releasing hormone receptor
GPI glucose-6-phosphate isomerase
GPRC5C G protein-coupled receptor, class C, group 5, member C
GRHL3 grainyhead-like 3 (Drosophila)
HEPH hephaestin
HPRT1 hypoxanthine phosphoribosyltransferase 1
IFT20 intraflagellar transport 20
IREB2 iron-responsive element binding protein 2
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KDM8 lysine (K)-specific demethylase 8
KEL Kell blood group, metallo-endopeptidase
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LGMN legumain
MYO1C myosin IC
MYSM1 Myb-like, SWIRM and MPN domains 1
NR1D2 nuclear receptor subfamily 1, group D, member 2
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
RNF10 ring finger protein 10
RPSA ribosomal protein SA
SKIDA1 SKI/DACH domain containing 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC38A10 solute carrier family 38, member 10
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SPTA1 spectrin, alpha, erythrocytic 1
STEAP3 STEAP family member 3, metalloreductase
TAL1 T-cell acute lymphocytic leukemia 1
TF transferrin
TMEM68 transmembrane protein 68
TMPRSS6 transmembrane protease, serine 6
TPI1 triosephosphate isomerase 1
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
ULK1 unc-51 like autophagy activating kinase 1
USP3 ubiquitin specific peptidase 3
XBP1 X-box binding protein 1
YIPF1 Yip1 domain family, member 1
ZC3HC1 zinc finger, C3HC-type containing 1