small lung Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of the lung compared to controls (Mammalian Phenotype Ontology, MP_0003641)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003641
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Genes

86 gene mutations causing the small lung phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ADAM17 ADAM metallopeptidase domain 17
ADGRA2 adhesion G protein-coupled receptor A2
ADRA2B adrenoceptor alpha 2B
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATR ATR serine/threonine kinase
BAG6 BCL2-associated athanogene 6
C5ORF42 chromosome 5 open reading frame 42
CBY1 chibby homolog 1 (Drosophila)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
COL2A1 collagen, type II, alpha 1
CREB1 cAMP responsive element binding protein 1
CREBBP CREB binding protein
CTGF connective tissue growth factor
CYLD cylindromatosis (turban tumor syndrome)
DCHS1 dachsous cadherin-related 1
DEDD death effector domain containing
DHCR7 7-dehydrocholesterol reductase
DLG1 discs, large homolog 1 (Drosophila)
ERRFI1 ERBB receptor feedback inhibitor 1
ESR1 estrogen receptor 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FEN1 flap structure-specific endonuclease 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FUZ fuzzy planar cell polarity protein
FXR1 fragile X mental retardation, autosomal homolog 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HBEGF heparin-binding EGF-like growth factor
HES1 hes family bHLH transcription factor 1
HHIP hedgehog interacting protein
HYAL1 hyaluronoglucosaminidase 1
IFT88 intraflagellar transport 88
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF7 kinesin family member 7
LAMA5 laminin, alpha 5
LAMC1 laminin, gamma 1 (formerly LAMB2)
LOX lysyl oxidase
LRP4 low density lipoprotein receptor-related protein 4
MAPK6 mitogen-activated protein kinase 6
MGP matrix Gla protein
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYOG myogenin (myogenic factor 4)
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NUBP1 nucleotide binding protein 1
PBRM1 polybromo 1
PBX1 pre-B-cell leukemia homeobox 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
POR P450 (cytochrome) oxidoreductase
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RDH10 retinol dehydrogenase 10 (all-trans)
RSPO2 R-spondin 2
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SHH sonic hedgehog
SNX5 sorting nexin 5
SOX11 SRY (sex determining region Y)-box 11
SPEG SPEG complex locus
STK40 serine/threonine kinase 40
SYNE1 spectrin repeat containing, nuclear envelope 1
TBC1D32 TBC1 domain family, member 32
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
TLR2 toll-like receptor 2
TRPS1 trichorhinophalangeal syndrome I
VANGL2 VANGL planar cell polarity protein 2
WDR35 WD repeat domain 35
WNT2 wingless-type MMTV integration site family member 2
WNT7B wingless-type MMTV integration site family, member 7B
ZFPM2 zinc finger protein, FOG family member 2