abnormal oxygen level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration of the gaseous element that is essential for animal and plant life (Mammalian Phenotype Ontology, MP_0001574)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001574
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Genes

207 gene mutations causing the abnormal oxygen level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADRA2B adrenoceptor alpha 2B
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALX1 ALX homeobox 1
AMER1 APC membrane recruitment protein 1
ANO1 anoctamin 1, calcium activated chloride channel
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATXN1L ataxin 1-like
C11ORF73 chromosome 11 open reading frame 73
CAPRIN1 cell cycle associated protein 1
CDK5 cyclin-dependent kinase 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHAT choline O-acetyltransferase
CHRD chordin
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
COMT catechol-O-methyltransferase
CUX1 cut-like homeobox 1
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DAAM1 dishevelled associated activator of morphogenesis 1
DACH1 dachshund family transcription factor 1
DBX1 developing brain homeobox 1
DHCR7 7-dehydrocholesterol reductase
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DOCK1 dedicator of cytokinesis 1
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
ECEL1 endothelin converting enzyme-like 1
EDN1 endothelin 1
EDN2 endothelin 2
EDNRB endothelin receptor type B
EGFL7 EGF-like-domain, multiple 7
EGFR epidermal growth factor receptor
EIF4E2 eukaryotic translation initiation factor 4E family member 2
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERRFI1 ERBB receptor feedback inhibitor 1
FBXW8 F-box and WD repeat domain containing 8
FGF18 fibroblast growth factor 18
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFRL1 fibroblast growth factor receptor-like 1
FKBP8 FK506 binding protein 8, 38kDa
FOSL2 FOS-like antigen 2
FOXG1 forkhead box G1
FST follistatin
FSTL1 follistatin-like 1
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GBA glucosidase, beta, acid
GBX2 gastrulation brain homeobox 2
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA1 gap junction protein, alpha 1, 43kDa
GPR4 G protein-coupled receptor 4
GREM1 gremlin 1, DAN family BMP antagonist
GRID2 glutamate receptor, ionotropic, delta 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSX2 GS homeobox 2
HBA1 hemoglobin, alpha 1
HDAC2 histone deacetylase 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HMOX2 heme oxygenase 2
HOXA1 homeobox A1
HOXA5 homeobox A5
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
ILF3 interleukin enhancer binding factor 3, 90kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSM1 insulinoma-associated 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6B lysine (K)-specific demethylase 6B
KIF5A kinesin family member 5A
KIFAP3 kinesin-associated protein 3
KLF7 Kruppel-like factor 7 (ubiquitous)
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHX5 LIM homeobox 5
LIF leukemia inhibitory factor
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MB myoglobin
MEX3C mex-3 RNA binding family member C
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
MSX1 msh homeobox 1
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUSK muscle, skeletal, receptor tyrosine kinase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYOG myogenin (myogenic factor 4)
NBEA neurobeachin
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFIB nuclear factor I/B
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPR2 natriuretic peptide receptor 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
OLIG3 oligodendrocyte transcription factor 3
PAX3 paired box 3
PBX3 pre-B-cell leukemia homeobox 3
PDPN podoplanin
PDS5B PDS5 cohesin associated factor B
PFKM phosphofructokinase, muscle
PHF14 PHD finger protein 14
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PLXND1 plexin D1
POLB polymerase (DNA directed), beta
POU2F2 POU class 2 homeobox 2
POU3F1 POU class 3 homeobox 1
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PTF1A pancreas specific transcription factor, 1a
PTHLH parathyroid hormone-like hormone
RB1 retinoblastoma 1
RIPPLY3 ripply transcriptional repressor 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SAFB scaffold attachment factor B
SCN2A sodium channel, voltage gated, type II alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SFTPB surfactant protein B
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNX5 sorting nexin 5
SOD2 superoxide dismutase 2, mitochondrial
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
SS18 synovial sarcoma translocation, chromosome 18
STAR steroidogenic acute regulatory protein
STIM1 stromal interaction molecule 1
STK40 serine/threonine kinase 40
SYNE1 spectrin repeat containing, nuclear envelope 1
TAL1 T-cell acute lymphocytic leukemia 1
TCF21 transcription factor 21
TFRC transferrin receptor
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TH tyrosine hydroxylase
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTN titin
USP1 ubiquitin specific peptidase 1
VEGFA vascular endothelial growth factor A
WNT2 wingless-type MMTV integration site family member 2
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YY1 YY1 transcription factor
ZEB1 zinc finger E-box binding homeobox 1
ZNF148 zinc finger protein 148