abnormal respiratory system development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant differentiation of pulmonary tissues (Mammalian Phenotype Ontology, MP_0003115)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003115
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Genes

131 gene mutations causing the abnormal respiratory system 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
ATMIN ATM interactor
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
CHD7 chromodomain helicase DNA binding protein 7
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CREB1 cAMP responsive element binding protein 1
CRH corticotropin releasing hormone
CSK c-src tyrosine kinase
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
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
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
FOXG1 forkhead box G1
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
GLI3 GLI family zinc finger 3
HAT1 histone acetyltransferase 1
HBEGF heparin-binding EGF-like growth factor
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HHEX hematopoietically expressed homeobox
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
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
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
SIX3 SIX homeobox 3
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
TCOF1 Treacher Collins-Franceschetti syndrome 1
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