abnormal respiration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the movement of gases into and out of the lung (Mammalian Phenotype Ontology, MP_0001943)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001943
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Genes

435 gene mutations causing the abnormal respiration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACAN aggrecan
ACHE acetylcholinesterase (Yt blood group)
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADGRF5 adhesion G protein-coupled receptor F5
ADK adenosine kinase
ADORA1 adenosine A1 receptor
ADORA3 adenosine A3 receptor
ADRA2B adrenoceptor alpha 2B
AFF4 AF4/FMR2 family, member 4
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALPL alkaline phosphatase, liver/bone/kidney
APOE apolipoprotein E
AQP5 aquaporin 5
ARHGAP5 Rho GTPase activating protein 5
ARID4A AT rich interactive domain 4A (RBP1-like)
ARMC4 armadillo repeat containing 4
ASCL1 achaete-scute family bHLH transcription factor 1
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
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
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG6 BCL2-associated athanogene 6
BDNF brain-derived neurotrophic factor
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSG basigin (Ok blood group)
C3AR1 complement component 3a receptor 1
C5 complement component 5
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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
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
CDK5 cyclin-dependent kinase 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
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
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
CLCA1 chloride channel accessory 1
CLCN7 chloride channel, voltage-sensitive 7
CLEC1B C-type lectin domain family 1, member B
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 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
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CRB3 crumbs family member 3
CRHR1 corticotropin releasing hormone receptor 1
CTGF connective tissue growth factor
CUL7 cullin 7
CUX1 cut-like homeobox 1
CXCR2 chemokine (C-X-C motif) receptor 2
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DACH1 dachshund family transcription factor 1
DBNL drebrin-like
DBT dihydrolipoamide branched chain transacylase E2
DBX1 developing brain homeobox 1
DCC DCC netrin 1 receptor
DERL2 derlin 2
DGKD diacylglycerol kinase, delta 130kDa
DHCR7 7-dehydrocholesterol reductase
DISP1 dispatched homolog 1 (Drosophila)
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DMRT2 doublesex and mab-3 related transcription factor 2
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNM1L dynamin 1-like
DPH1 diphthamide biosynthesis 1
DRD2 dopamine receptor D2
DSCAM Down syndrome cell adhesion molecule
DVL3 dishevelled segment polarity protein 3
E2F3 E2F transcription factor 3
ECEL1 endothelin converting enzyme-like 1
EDARADD EDAR-associated death domain
EDN2 endothelin 2
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
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)
ENG endoglin
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
EYA3 EYA transcriptional coactivator and phosphatase 3
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FBN1 fibrillin 1
FBXO45 F-box protein 45
FBXW8 F-box and WD repeat domain containing 8
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
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
FLNC filamin C, gamma
FOXC1 forkhead box C1
FOXD1 forkhead box D1
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXM1 forkhead box M1
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)
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
GPHN gephyrin
GPR4 G protein-coupled receptor 4
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
GSX2 GS homeobox 2
HAT1 histone acetyltransferase 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HCRT hypocretin (orexin) neuropeptide precursor
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
HMGN5 high mobility group nucleosome binding domain 5
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
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
ICAM2 intercellular adhesion molecule 2
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
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IL10 interleukin 10
IL13RA1 interleukin 13 receptor, alpha 1
IL17RB interleukin 17 receptor B
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
ITGA9 integrin, alpha 9
ITGB4 integrin, beta 4
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG2 jagged 2
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
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
KDM6A lysine (K)-specific demethylase 6A
KIF1B kinesin family member 1B
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
LBR lamin B receptor
LDB3 LIM domain binding 3
LEPR leptin receptor
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LPAR2 lysophosphatidic acid receptor 2
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LTB4R leukotriene B4 receptor
LTBP4 latent transforming growth factor beta binding protein 4
LYZ lysozyme
MADD MAP-kinase activating death domain
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
MCM2 minichromosome maintenance complex component 2
MDFI MyoD family inhibitor
MECP2 methyl CpG binding protein 2
MEG3 maternally expressed 3 (non-protein coding)
MET MET proto-oncogene, receptor tyrosine kinase
MIA3 melanoma inhibitory activity family, member 3
MINA MYC induced nuclear antigen
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 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
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)
NFIB nuclear factor I/B
NGFR nerve growth factor receptor
NIPAL3 NIPA-like domain containing 3
NKX2-1 NK2 homeobox 1
NKX3-2 NK3 homeobox 2
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPSR1 neuropeptide S receptor 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
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
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
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
PEX13 peroxisomal biogenesis factor 13
PEX5 peroxisomal biogenesis factor 5
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
POLB polymerase (DNA directed), beta
POU3F1 POU class 3 homeobox 1
PPME1 protein phosphatase methylesterase 1
PRDM16 PR domain containing 16
PRKCQ protein kinase C, theta
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PRX periaxin
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RAB38 RAB38, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RIPPLY2 ripply transcriptional repressor 2
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
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
RUNX2 runt-related transcription factor 2
RUNX3 runt-related transcription factor 3
RYR1 ryanodine receptor 1 (skeletal)
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
SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4
SFN stratifin
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SIM2 single-minded family bHLH transcription factor 2
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)
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
SPRED1 sprouty-related, EVH1 domain containing 1
SSTR4 somatostatin receptor 4
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STIM1 stromal interaction molecule 1
STK40 serine/threonine kinase 40
SUCO SUN domain containing ossification factor
SULF2 sulfatase 2
TACR1 tachykinin receptor 1
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
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TH tyrosine hydroxylase
THRB thyroid hormone receptor, beta
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNNI3 troponin I type 3 (cardiac)
TOP2B topoisomerase (DNA) II beta 180kDa
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TPP1 tripeptidyl peptidase I
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
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
UNC13A unc-13 homolog A (C. elegans)
UNCX UNC homeobox
VEGFA vascular endothelial growth factor A
WNT5A wingless-type MMTV integration site family, member 5A
WNT7B wingless-type MMTV integration site family, member 7B
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
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5