increased hematocrit Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An increase in the volume of packed erythrocytes in a blood specimen. (Human Phenotype Ontology, HP_0001899)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002608
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AQP2 aquaporin 2 (collecting duct)
AVPR2 arginine vasopressin receptor 2
BSND barttin CLCNK-type chloride channel accessory beta subunit
CASR calcium-sensing receptor
CLDN7 claudin 7
CLEC10A C-type lectin domain family 10, member A
CLK1 CDC-like kinase 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
EDN2 endothelin 2
EGLN1 egl-9 family hypoxia-inducible factor 1
EPAS1 endothelial PAS domain protein 1
EPOR erythropoietin receptor
FAHD2B fumarylacetoacetate hydrolase domain containing 2B
FAM134C family with sequence similarity 134, member C
FAM83G family with sequence similarity 83, member G
FES FES proto-oncogene, tyrosine kinase
HMGB3 high mobility group box 3
JAK2 Janus kinase 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LCN2 lipocalin 2
LOC102723475 putative uncharacterized protein LOC388820
MAPK10 mitogen-activated protein kinase 10
MAPRE3 microtubule-associated protein, RP/EB family, member 3
MB myoglobin
MED18 mediator complex subunit 18
MTRF1 mitochondrial translational release factor 1
MYSM1 Myb-like, SWIRM and MPN domains 1
NPR3 natriuretic peptide receptor 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
RXFP2 relaxin/insulin-like family peptide receptor 2
SECISBP2 SECIS binding protein 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
TMPO thymopoietin
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TTLL1 tubulin tyrosine ligase-like family member 1
VANGL2 VANGL planar cell polarity protein 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
XBP1 X-box binding protein 1