abnormal respiratory function Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in any measure of the processes involved in respiration (Mammalian Phenotype Ontology, MP_0002327)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002327
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Genes

285 gene mutations causing the abnormal respiratory function 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
ADORA3 adenosine A3 receptor
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALPL alkaline phosphatase, liver/bone/kidney
APOE apolipoprotein E
AQP5 aquaporin 5
ARID4A AT rich interactive domain 4A (RBP1-like)
ASCL1 achaete-scute family bHLH transcription factor 1
ATOH1 atonal homolog 1 (Drosophila)
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSG basigin (Ok blood group)
C3AR1 complement component 3a receptor 1
C5 complement component 5
CALCB calcitonin-related polypeptide beta
CARD11 caspase recruitment domain family, member 11
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
CHD2 chromodomain helicase DNA binding protein 2
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CISD2 CDGSH iron sulfur domain 2
CLCA1 chloride channel accessory 1
CLEC1B C-type lectin domain family 1, member B
COL1A1 collagen, type I, 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
CUL7 cullin 7
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
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
DNAH5 dynein, axonemal, heavy chain 5
DNM1L dynamin 1-like
DRD2 dopamine receptor D2
DSCAM Down syndrome cell adhesion molecule
DVL3 dishevelled segment polarity protein 3
E2F3 E2F transcription factor 3
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
EGR2 early growth response 2
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ENG endoglin
EPAS1 endothelial PAS domain protein 1
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FBN1 fibrillin 1
FBXW8 F-box and WD repeat domain containing 8
FGF10 fibroblast growth factor 10
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
FOXD1 forkhead box D1
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FSTL1 follistatin-like 1
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLS glutaminase
GNAS GNAS complex locus
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
HCK HCK proto-oncogene, Src family tyrosine kinase
HCRT hypocretin (orexin) neuropeptide precursor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HMGN5 high mobility group nucleosome binding domain 5
HMOX2 heme oxygenase 2
HOXA5 homeobox A5
HOXB2 homeobox B2
HOXB4 homeobox B4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICAM2 intercellular adhesion molecule 2
IFNG interferon, gamma
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
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
ILF3 interleukin enhancer binding factor 3, 90kDa
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
ITGA9 integrin, alpha 9
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG2 jagged 2
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
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KDM6A lysine (K)-specific demethylase 6A
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
LDB3 LIM domain binding 3
LMNA lamin A/C
LPAR2 lysophosphatidic acid receptor 2
LPCAT1 lysophosphatidylcholine acyltransferase 1
LTB4R leukotriene B4 receptor
LTBP4 latent transforming growth factor beta binding protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MCM2 minichromosome maintenance complex component 2
MDFI MyoD family inhibitor
MECP2 methyl CpG binding protein 2
MINA MYC induced nuclear antigen
MN1 meningioma (disrupted in balanced translocation) 1
MSX1 msh homeobox 1
MTM1 myotubularin 1
MUC5B mucin 5B, oligomeric mucus/gel-forming
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
MYF6 myogenic factor 6 (herculin)
MYH11 myosin, heavy chain 11, smooth muscle
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
NEU1 sialidase 1 (lysosomal sialidase)
NFIB nuclear factor I/B
NGFR nerve growth factor receptor
NIPAL3 NIPA-like domain containing 3
NKX3-2 NK3 homeobox 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)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OLIG2 oligodendrocyte lineage transcription factor 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PAX3 paired box 3
PAX9 paired box 9
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)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAGL1 pleiomorphic adenoma gene-like 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
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGES3 prostaglandin E synthase 3 (cytosolic)
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 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
SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4
SFN stratifin
SFTPB surfactant protein B
SFTPC surfactant protein C
SIM2 single-minded family bHLH transcription factor 2
SIX1 SIX homeobox 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
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)
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
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
STK40 serine/threonine kinase 40
SUCO SUN domain containing ossification factor
SULF2 sulfatase 2
TACR1 tachykinin receptor 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
THRB thyroid hormone receptor, beta
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
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNNI3 troponin I type 3 (cardiac)
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TPP1 tripeptidyl peptidase I
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
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
UNC13A unc-13 homolog A (C. elegans)
VEGFA vascular endothelial growth factor A
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5