abnormal lung epithelium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the epithelial layer of the lung (Mammalian Phenotype Ontology, MP_0006382)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006382
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Genes

87 gene mutations causing the abnormal lung 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
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ASCL1 achaete-scute family bHLH transcription factor 1
BID BH3 interacting domain death agonist
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPER BMP binding endothelial regulator
C11ORF73 chromosome 11 open reading frame 73
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
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
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCA1 chloride channel accessory 1
CRB3 crumbs family member 3
CRH corticotropin releasing hormone
CTGF connective tissue growth factor
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
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
FRAS1 Fraser extracellular matrix complex subunit 1
FSTL1 follistatin-like 1
GLI2 GLI family zinc finger 2
GPR4 G protein-coupled receptor 4
GREM1 gremlin 1, DAN family BMP antagonist
HBEGF heparin-binding EGF-like growth factor
HES1 hes family bHLH transcription factor 1
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)
IGF1 insulin-like growth factor 1 (somatomedin C)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
KRAS Kirsten rat sarcoma viral oncogene homolog
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
MMP14 matrix metallopeptidase 14 (membrane-inserted)
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
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUBP1 nucleotide binding protein 1
PAM peptidylglycine alpha-amidating monooxygenase
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
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RUNX3 runt-related transcription factor 3
S1PR3 sphingosine-1-phosphate receptor 3
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SNX5 sorting nexin 5
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
THBS1 thrombospondin 1
TMEM38B transmembrane protein 38B
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
VANGL2 VANGL planar cell polarity protein 2
WNT7B wingless-type MMTV integration site family, member 7B