abnormal lung development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process of formation of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs (Mammalian Phenotype Ontology, MP_0001176)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001176
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Genes

117 gene mutations causing the abnormal lung development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADAM17 ADAM metallopeptidase domain 17
ADRA2B adrenoceptor alpha 2B
ASCL1 achaete-scute family bHLH transcription factor 1
BAG6 BCL2-associated athanogene 6
BCLAF1 BCL2-associated transcription factor 1
BMPER BMP binding endothelial regulator
C11ORF73 chromosome 11 open reading frame 73
CBS cystathionine-beta-synthase
CBY1 chibby homolog 1 (Drosophila)
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
CREB1 cAMP responsive element binding protein 1
CRH corticotropin releasing hormone
CTGF connective tissue growth factor
CUX1 cut-like homeobox 1
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
DPH1 diphthamide biosynthesis 1
EGFR epidermal growth factor receptor
ELN elastin
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
FAM20B family with sequence similarity 20, member B
FBLN1 fibulin 1
FBN1 fibrillin 1
FEN1 flap structure-specific endonuclease 1
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
FOXF1 forkhead box F1
FOXM1 forkhead box M1
FOXP2 forkhead box P2
FRAS1 Fraser extracellular matrix complex subunit 1
FSTL1 follistatin-like 1
GAK cyclin G associated kinase
GATA4 GATA binding protein 4
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GLI2 GLI family zinc finger 2
HAT1 histone acetyltransferase 1
HBEGF heparin-binding EGF-like growth factor
HIF3A hypoxia inducible factor 3, alpha subunit
HOPX HOP homeobox
HOXA5 homeobox A5
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IFT88 intraflagellar transport 88
IGF2R insulin-like growth factor 2 receptor
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA8 integrin, alpha 8
JMJD6 jumonji domain containing 6
LAMC1 laminin, gamma 1 (formerly LAMB2)
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNB1 lamin B1
LOX lysyl oxidase
LYST lysosomal trafficking regulator
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYOG myogenin (myogenic factor 4)
NABP2 nucleic acid binding protein 2
NEUROD1 neuronal differentiation 1
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NOG noggin
NPAS3 neuronal PAS domain protein 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUBP1 nucleotide binding protein 1
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
PTK2 protein tyrosine kinase 2
PTK7 protein tyrosine kinase 7 (inactive)
PYGO2 pygopus family PHD finger 2
RARB retinoic acid receptor, beta
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RC3H1 ring finger and CCCH-type domains 1
RC3H2 ring finger and CCCH-type domains 2
RDH10 retinol dehydrogenase 10 (all-trans)
RET ret proto-oncogene
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
SAFB scaffold attachment factor B
SAV1 salvador family WW domain containing protein 1
SEPN1 selenoprotein N, 1
SHH sonic hedgehog
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
STK11 serine/threonine kinase 11
STK36 serine/threonine kinase 36
STK40 serine/threonine kinase 40
SULF2 sulfatase 2
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TRIP11 thyroid hormone receptor interactor 11
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WNT2 wingless-type MMTV integration site family member 2
WNT5A wingless-type MMTV integration site family, member 5A
WNT7B wingless-type MMTV integration site family, member 7B
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
ZFPM2 zinc finger protein, FOG family member 2
ZNF148 zinc finger protein 148