abnormal respiratory conducting tube morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the tubes of the respiratory system that allow passage of air from the trachea to the terminal bronchioles (Mammalian Phenotype Ontology, MP_0004391)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004391
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Genes

67 gene mutations causing the abnormal respiratory conducting tube morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACVR2B activin A receptor, type IIB
ADAM17 ADAM metallopeptidase domain 17
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANO1 anoctamin 1, calcium activated chloride channel
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG6 BCL2-associated athanogene 6
C11ORF73 chromosome 11 open reading frame 73
CBY1 chibby homolog 1 (Drosophila)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CRB3 crumbs family member 3
CRH corticotropin releasing hormone
CTGF connective tissue growth factor
DNAH11 dynein, axonemal, heavy chain 11
EGFR epidermal growth factor receptor
ERRFI1 ERBB receptor feedback inhibitor 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FOXP2 forkhead box P2
FSTL1 follistatin-like 1
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GPR4 G protein-coupled receptor 4
GRHL2 grainyhead-like 2 (Drosophila)
HES1 hes family bHLH transcription factor 1
HOXA5 homeobox A5
IL4R interleukin 4 receptor
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA8 integrin, alpha 8
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMC1 laminin, gamma 1 (formerly LAMB2)
LEFTY1 left-right determination factor 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
MED1 mediator complex subunit 1
MGP matrix Gla protein
MIR155 microRNA 155
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MTAP methylthioadenosine phosphorylase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NKX2-8 NK2 homeobox 8
NPAS3 neuronal PAS domain protein 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PAM peptidylglycine alpha-amidating monooxygenase
PURA purine-rich element binding protein A
RAB38 RAB38, member RAS oncogene family
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
SFTPC surfactant protein C
SHH sonic hedgehog
SOX11 SRY (sex determining region Y)-box 11
TCF21 transcription factor 21
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
THBS1 thrombospondin 1
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TRAF4 TNF receptor-associated factor 4
VANGL2 VANGL planar cell polarity protein 2