abnormal respiratory epithelium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. (Human Phenotype Ontology, HP_0012253)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010942
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Genes

164 gene mutations causing the abnormal respiratory epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADAM17 ADAM metallopeptidase domain 17
ADGRF5 adhesion G protein-coupled receptor F5
AK7 adenylate kinase 7
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANO1 anoctamin 1, calcium activated chloride channel
AQP3 aquaporin 3 (Gill blood group)
ARMC4 armadillo repeat containing 4
ASCL1 achaete-scute family bHLH transcription factor 1
ATF5 activating transcription factor 5
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BID BH3 interacting domain death agonist
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
C11ORF73 chromosome 11 open reading frame 73
C3AR1 complement component 3a receptor 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CCKAR cholecystokinin A receptor
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CEP290 centrosomal protein 290kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHL1 cell adhesion molecule L1-like
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CISH cytokine inducible SH2-containing protein
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCA1 chloride channel accessory 1
CNGA2 cyclic nucleotide gated channel alpha 2
CRB3 crumbs family member 3
CRH corticotropin releasing hormone
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTGF connective tissue growth factor
CXCR2 chemokine (C-X-C motif) receptor 2
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
DLX5 distal-less homeobox 5
DNAAF2 dynein, axonemal, assembly factor 2
DNAH5 dynein, axonemal, heavy chain 5
E2F4 E2F transcription factor 4, p107/p130-binding
EBF2 early B-cell factor 2
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FEZF1 FEZ family zinc finger 1
FGF10 fibroblast growth factor 10
FOXG1 forkhead box G1
FOXJ1 forkhead box J1
FOXP3 forkhead box P3
FPR2 formyl peptide receptor 2
FRAS1 Fraser extracellular matrix complex subunit 1
FST follistatin
FSTL1 follistatin-like 1
GDF11 growth differentiation factor 11
GFY golgi-associated, olfactory signaling regulator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPR4 G protein-coupled receptor 4
GREM1 gremlin 1, DAN family BMP antagonist
GSC goosecoid homeobox
GSX2 GS homeobox 2
HBEGF heparin-binding EGF-like growth factor
HCK HCK proto-oncogene, Src family tyrosine kinase
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HIST1H2BJ histone cluster 1, H2bj
HOPX HOP homeobox
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HYDIN HYDIN, axonemal central pair apparatus protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IL33 interleukin 33
IL4R interleukin 4 receptor
INSM1 insulinoma-associated 1
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGB4 integrin, beta 4
KIF19 kinesin family member 19
KRAS Kirsten rat sarcoma viral oncogene homolog
LGALS1 lectin, galactoside-binding, soluble, 1
LHX4 LIM homeobox 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LMO7 LIM domain 7
LOX lysyl oxidase
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
LYZ lysozyme
MAPK6 mitogen-activated protein kinase 6
MARVELD2 MARVEL domain containing 2
MKKS McKusick-Kaufman syndrome
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MNS1 meiosis-specific nuclear structural 1
NABP2 nucleic acid binding protein 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEUROD1 neuronal differentiation 1
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NKX2-8 NK2 homeobox 8
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPY1R neuropeptide Y receptor Y1
NPY2R neuropeptide Y receptor Y2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUBP1 nucleotide binding protein 1
NXNL2 nucleoredoxin-like 2
OR8A1 olfactory receptor, family 8, subfamily A, member 1
OTX2 orthodenticle homeobox 2
PAM peptidylglycine alpha-amidating monooxygenase
PAX6 paired box 6
PDPN podoplanin
PHIP pleckstrin homology domain interacting protein
PRDX6 peroxiredoxin 6
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
PURA purine-rich element binding protein A
RAB38 RAB38, member RAS oncogene family
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RORA RAR-related orphan receptor A
RUNX3 runt-related transcription factor 3
S1PR3 sphingosine-1-phosphate receptor 3
SAV1 salvador family WW domain containing protein 1
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SIX1 SIX homeobox 1
SNX5 sorting nexin 5
SPDEF SAM pointed domain containing ETS transcription factor
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TACR1 tachykinin receptor 1
TCF21 transcription factor 21
TEKT2 tektin 2 (testicular)
TGFB3 transforming growth factor, beta 3
THBS1 thrombospondin 1
TMEM38B transmembrane protein 38B
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TP63 tumor protein p63
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTC8 tetratricopeptide repeat domain 8
TTLL1 tubulin tyrosine ligase-like family member 1
ULK4 unc-51 like kinase 4
VANGL2 VANGL planar cell polarity protein 2
VDAC3 voltage-dependent anion channel 3
WNT7B wingless-type MMTV integration site family, member 7B
ZEB1 zinc finger E-box binding homeobox 1
ZNF423 zinc finger protein 423