abnormal respiratory system physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment (Mammalian Phenotype Ontology, MP_0002133)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002133
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Genes

658 gene mutations causing the abnormal respiratory system physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAN aggrecan
ACHE acetylcholinesterase (Yt blood group)
ACKR3 atypical chemokine receptor 3
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOQ adiponectin, C1Q and collagen domain containing
ADK adenosine kinase
ADM adrenomedullin
ADORA1 adenosine A1 receptor
ADORA3 adenosine A3 receptor
ADRA2B adrenoceptor alpha 2B
AFF4 AF4/FMR2 family, member 4
AGRN agrin
AHR aryl hydrocarbon receptor
AIRE autoimmune regulator
AK7 adenylate kinase 7
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALPL alkaline phosphatase, liver/bone/kidney
AMPD3 adenosine monophosphate deaminase 3
ANO1 anoctamin 1, calcium activated chloride channel
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOE apolipoprotein E
AQP1 aquaporin 1 (Colton blood group)
AQP5 aquaporin 5
ARHGAP5 Rho GTPase activating protein 5
ARID4A AT rich interactive domain 4A (RBP1-like)
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
ARMC4 armadillo repeat containing 4
ASCL1 achaete-scute family bHLH transcription factor 1
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ATF2 activating transcription factor 2
ATF3 activating transcription factor 3
ATOH1 atonal homolog 1 (Drosophila)
ATOX1 antioxidant 1 copper chaperone
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG3 BCL2-associated athanogene 3
BAG6 BCL2-associated athanogene 6
BCL6 B-cell CLL/lymphoma 6
BDNF brain-derived neurotrophic factor
BIN3 bridging integrator 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPER BMP binding endothelial regulator
BPIFA1 BPI fold containing family A, member 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSG basigin (Ok blood group)
C11ORF73 chromosome 11 open reading frame 73
C1ORF127 chromosome 1 open reading frame 127
C3AR1 complement component 3a receptor 1
C5 complement component 5
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS Ca++-dependent secretion activator
CALCB calcitonin-related polypeptide beta
CAPRIN1 cell cycle associated protein 1
CARD11 caspase recruitment domain family, member 11
CARM1 coactivator-associated arginine methyltransferase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CC2D1A coiled-coil and C2 domain containing 1A
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CCR4 chemokine (C-C motif) receptor 4
CD14 CD14 molecule
CD1D CD1d molecule
CD300LF CD300 molecule-like family member f
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD72 CD72 molecule
CDK5 cyclin-dependent kinase 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD2 chromodomain helicase DNA binding protein 2
CHRM1 cholinergic receptor, muscarinic 1
CHRM2 cholinergic receptor, muscarinic 2
CHRM3 cholinergic receptor, muscarinic 3
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CISD2 CDGSH iron sulfur domain 2
CISH cytokine inducible SH2-containing protein
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCA1 chloride channel accessory 1
CLCN7 chloride channel, voltage-sensitive 7
CLEC1B C-type lectin domain family 1, member B
CLEC4D C-type lectin domain family 4, member D
CLEC7A C-type lectin domain family 7, member A
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
CMKLR1 chemerin chemokine-like receptor 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A2 collagen, type V, alpha 2
COMMD3-BMI1 COMMD3-BMI1 readthrough
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CRB3 crumbs family member 3
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CRLF2 cytokine receptor-like factor 2
CROCC ciliary rootlet coiled-coil, rootletin
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSH cathepsin H
CTTN cortactin
CUL7 cullin 7
CUX1 cut-like homeobox 1
CXADR coxsackie virus and adenovirus receptor
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYSLTR1 cysteinyl leukotriene receptor 1
DACH1 dachshund family transcription factor 1
DAW1 dynein assembly factor with WDR repeat domains 1
DBNL drebrin-like
DBT dihydrolipoamide branched chain transacylase E2
DBX1 developing brain homeobox 1
DCBLD2 discoidin, CUB and LCCL domain containing 2
DCC DCC netrin 1 receptor
DERL2 derlin 2
DGKD diacylglycerol kinase, delta 130kDa
DHCR7 7-dehydrocholesterol reductase
DISP1 dispatched homolog 1 (Drosophila)
DKC1 dyskeratosis congenita 1, dyskerin
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMRT2 doublesex and mab-3 related transcription factor 2
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNM1L dynamin 1-like
DOCK1 dedicator of cytokinesis 1
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPH1 diphthamide biosynthesis 1
DPPA4 developmental pluripotency associated 4
DRD2 dopamine receptor D2
DSCAM Down syndrome cell adhesion molecule
DTX1 deltex 1, E3 ubiquitin ligase
DUSP1 dual specificity phosphatase 1
DVL3 dishevelled segment polarity protein 3
DYX1C1 dyslexia susceptibility 1 candidate 1
E2F2 E2F transcription factor 2
E2F3 E2F transcription factor 3
E2F4 E2F transcription factor 4, p107/p130-binding
ECEL1 endothelin converting enzyme-like 1
EDARADD EDAR-associated death domain
EDN2 endothelin 2
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB2 ephrin-B2
EFS embryonal Fyn-associated substrate
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGR2 early growth response 2
EIF4E2 eukaryotic translation initiation factor 4E family member 2
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ELN elastin
ENG endoglin
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
ESR2 estrogen receptor 2 (ER beta)
EYA3 EYA transcriptional coactivator and phosphatase 3
F13A1 coagulation factor XIII, A1 polypeptide
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXO45 F-box protein 45
FBXW8 F-box and WD repeat domain containing 8
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FFAR2 free fatty acid receptor 2
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP8 FK506 binding protein 8, 38kDa
FLNA filamin A, alpha
FLNC filamin C, gamma
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXD1 forkhead box D1
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXM1 forkhead box M1
FOXO3 forkhead box O3
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FST follistatin
FSTL1 follistatin-like 1
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAK cyclin G associated kinase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLS glutaminase
GNAS GNAS complex locus
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GPC3 glypican 3
GPHN gephyrin
GPR132 G protein-coupled receptor 132
GPR4 G protein-coupled receptor 4
GPRC5A G protein-coupled receptor, class C, group 5, member A
GREM1 gremlin 1, DAN family BMP antagonist
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRK5 G protein-coupled receptor kinase 5
GSC goosecoid homeobox
GSN gelsolin
GSX2 GS homeobox 2
HAS3 hyaluronan synthase 3
HAT1 histone acetyltransferase 1
HAVCR1 hepatitis A virus cellular receptor 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HCRT hypocretin (orexin) neuropeptide precursor
HEG1 heart development protein with EGF-like domains 1
HELLS helicase, lymphoid-specific
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHIP hedgehog interacting protein
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HMGB1 high mobility group box 1
HMGN5 high mobility group nucleosome binding domain 5
HMOX1 heme oxygenase 1
HMOX2 heme oxygenase 2
HNF4G hepatocyte nuclear factor 4, gamma
HOPX HOP homeobox
HOXA1 homeobox A1
HOXA5 homeobox A5
HOXB2 homeobox B2
HOXB4 homeobox B4
HPS1 Hermansky-Pudlak syndrome 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
ICAM2 intercellular adhesion molecule 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IGHM immunoglobulin heavy constant mu
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL13RA1 interleukin 13 receptor, alpha 1
IL17RA interleukin 17 receptor A
IL17RB interleukin 17 receptor B
IL2 interleukin 2
IL22 interleukin 22
IL25 interleukin 25
IL33 interleukin 33
IL4 interleukin 4
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
ILF3 interleukin enhancer binding factor 3, 90kDa
IMPAD1 inositol monophosphatase domain containing 1
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSM1 insulinoma-associated 1
ISL2 ISL LIM homeobox 2
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
ITGA9 integrin, alpha 9
ITGB4 integrin, beta 4
ITGB6 integrin, beta 6
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
IVNS1ABP influenza virus NS1A binding protein
JAG2 jagged 2
JAM3 junctional adhesion molecule 3
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
KAT2A K(lysine) acetyltransferase 2A
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK5 potassium channel, two pore domain subfamily K, member 5
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM6A lysine (K)-specific demethylase 6A
KIF1B kinesin family member 1B
KIF27 kinesin family member 27
KIF5A kinesin family member 5A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLF7 Kruppel-like factor 7 (ubiquitous)
KY kyphoscoliosis peptidase
LACTB2 lactamase, beta 2
LAMC2 laminin, gamma 2
LAT linker for activation of T cells
LBR lamin B receptor
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHX4 LIM homeobox 4
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LOX lysyl oxidase
LPAR2 lysophosphatidic acid receptor 2
LPAR4 lysophosphatidic acid receptor 4
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LTA lymphotoxin alpha
LTB4R leukotriene B4 receptor
LTBP4 latent transforming growth factor beta binding protein 4
LTC4S leukotriene C4 synthase
LYST lysosomal trafficking regulator
LYZ lysozyme
MADD MAP-kinase activating death domain
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAN2A1 mannosidase, alpha, class 2A, member 1
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM2 minichromosome maintenance complex component 2
MDFI MyoD family inhibitor
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MEG3 maternally expressed 3 (non-protein coding)
MET MET proto-oncogene, receptor tyrosine kinase
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIA3 melanoma inhibitory activity family, member 3
MINA MYC induced nuclear antigen
MIR155 microRNA 155
MIR223 microRNA 223
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
MMP10 matrix metallopeptidase 10
MMP9 matrix metallopeptidase 9
MN1 meningioma (disrupted in balanced translocation) 1
MNX1 motor neuron and pancreas homeobox 1
MORF4L1 mortality factor 4 like 1
MSX1 msh homeobox 1
MTM1 myotubularin 1
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYH11 myosin, heavy chain 11, smooth muscle
MYLPF myosin light chain, phosphorylatable, fast skeletal muscle
MYOG myogenin (myogenic factor 4)
NABP2 nucleic acid binding protein 2
NALCN sodium leak channel, non selective
NCF1 neutrophil cytosolic factor 1
NCKAP1L NCK-associated protein 1-like
NDFIP1 Nedd4 family interacting protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NELL1 NEL-like 1 (chicken)
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NGFR nerve growth factor receptor
NIPAL3 NIPA-like domain containing 3
NKX2-1 NK2 homeobox 1
NKX3-2 NK3 homeobox 2
NME5 NME/NM23 family member 5
NME7 NME/NM23 family member 7
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPR1 natriuretic peptide receptor 1
NPSR1 neuropeptide S receptor 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NUBP1 nucleotide binding protein 1
OLIG2 oligodendrocyte lineage transcription factor 2
OLIG3 oligodendrocyte transcription factor 3
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PANX1 pannexin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PASK PAS domain containing serine/threonine kinase
PAX3 paired box 3
PAX6 paired box 6
PAX9 paired box 9
PBX3 pre-B-cell leukemia homeobox 3
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPN podoplanin
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PECAM1 platelet/endothelial cell adhesion molecule 1
PEX13 peroxisomal biogenesis factor 13
PEX5 peroxisomal biogenesis factor 5
PFDN1 prefoldin subunit 1
PHF14 PHD finger protein 14
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITX3 paired-like homeodomain 3
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLAT plasminogen activator, tissue
POLB polymerase (DNA directed), beta
POU3F1 POU class 3 homeobox 1
PPME1 protein phosphatase methylesterase 1
PRDM16 PR domain containing 16
PRDX3 peroxiredoxin 3
PRDX6 peroxiredoxin 6
PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
PRKCQ protein kinase C, theta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PRX periaxin
PSAP prosaposin
PSEN2 presenilin 2
PTGDR prostaglandin D2 receptor (DP)
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTX3 pentraxin 3, long
RAB38 RAB38, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG2 recombination activating gene 2
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RC3H1 ring finger and CCCH-type domains 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGN regucalcin
RGS3 regulator of G-protein signaling 3
RIPPLY2 ripply transcriptional repressor 2
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROPN1L rhophilin associated tail protein 1-like
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RORA RAR-related orphan receptor A
RSPO2 R-spondin 2
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RUNX3 runt-related transcription factor 3
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SCARA5 scavenger receptor class A, member 5
SCG5 secretogranin V
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SEPN1 selenoprotein N, 1
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFN stratifin
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SH3BP2 SH3-domain binding protein 2
SHARPIN SHANK-associated RH domain interactor
SIGLEC8 sialic acid binding Ig-like lectin 8
SIM2 single-minded family bHLH transcription factor 2
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SKOR2 SKI family transcriptional corepressor 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLIT3 slit homolog 3 (Drosophila)
SMAD9 SMAD family member 9
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNAP25 synaptosomal-associated protein, 25kDa
SNX5 sorting nexin 5
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SPEF2 sperm flagellar 2
SPRED1 sprouty-related, EVH1 domain containing 1
SPTA1 spectrin, alpha, erythrocytic 1
SSTR4 somatostatin receptor 4
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STIM1 stromal interaction molecule 1
STK36 serine/threonine kinase 36
STK40 serine/threonine kinase 40
STXBP2 syntaxin binding protein 2
SUCO SUN domain containing ossification factor
SULF2 sulfatase 2
SYK spleen tyrosine kinase
SYNE1 spectrin repeat containing, nuclear envelope 1
TACR1 tachykinin receptor 1
TANK TRAF family member-associated NFKB activator
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX18 T-box 18
TBX21 T-box 21
TBX22 T-box 22
TBXA2R thromboxane A2 receptor
TCF15 transcription factor 15 (basic helix-loop-helix)
TCF21 transcription factor 21
TCOF1 Treacher Collins-Franceschetti syndrome 1
TEKT2 tektin 2 (testicular)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TH tyrosine hydroxylase
THBS1 thrombospondin 1
THRB thyroid hormone receptor, beta
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNNI3 troponin I type 3 (cardiac)
TOM1L2 target of myb1-like 2 (chicken)
TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast)
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TP73 tumor protein p73
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TPP1 tripeptidyl peptidase I
TRAF3IP2 TRAF3 interacting protein 2
TRAF4 TNF receptor-associated factor 4
TREX1 three prime repair exonuclease 1
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHZ1 teashirt zinc finger homeobox 1
TSHZ3 teashirt zinc finger homeobox 3
TSLP thymic stromal lymphopoietin
TTL tubulin tyrosine ligase
TTLL1 tubulin tyrosine ligase-like family member 1
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UNC13A unc-13 homolog A (C. elegans)
UNCX UNC homeobox
USP25 ubiquitin specific peptidase 25
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
WNT2 wingless-type MMTV integration site family member 2
WNT5A wingless-type MMTV integration site family, member 5A
WNT7B wingless-type MMTV integration site family, member 7B
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
YY1 YY1 transcription factor
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5