abnormal lung size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the size of the lung compared to controls (Mammalian Phenotype Ontology, MP_0004881)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004881
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Genes

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

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACAN aggrecan
ACE2 angiotensin I converting enzyme 2
ADAM17 ADAM metallopeptidase domain 17
ADGRA2 adhesion G protein-coupled receptor A2
ADGRF5 adhesion G protein-coupled receptor F5
ADRA2B adrenoceptor alpha 2B
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP7A ATPase, Cu++ transporting, alpha polypeptide
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
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM 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
FSTL1 follistatin-like 1
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
GPC3 glypican 3
GPI glucose-6-phosphate isomerase
GRB10 growth factor receptor-bound protein 10
HBEGF heparin-binding EGF-like growth factor
HCK HCK proto-oncogene, Src family tyrosine kinase
HES1 hes family bHLH transcription factor 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHIP hedgehog interacting protein
HLX H2.0-like homeobox
HOXA5 homeobox A5
HSPB8 heat shock 22kDa protein 8
HYAL1 hyaluronoglucosaminidase 1
IFT88 intraflagellar transport 88
IGF2R insulin-like growth factor 2 receptor
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF7 kinesin family member 7
KIFAP3 kinesin-associated protein 3
KLF3 Kruppel-like factor 3 (basic)
LAMA5 laminin, alpha 5
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDHA lactate dehydrogenase A
LOX lysyl oxidase
LRP4 low density lipoprotein receptor-related protein 4
LTBP4 latent transforming growth factor beta binding protein 4
MAPK6 mitogen-activated protein kinase 6
MARK2 MAP/microtubule affinity-regulating kinase 2
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)
NEK6 NIMA-related kinase 6
NFE2L2 nuclear factor, erythroid 2-like 2
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
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
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
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
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
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCRIB scribbled planar cell polarity protein
SEC24B SEC24 family member B
SHH sonic hedgehog
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SNX5 sorting nexin 5
SOX11 SRY (sex determining region Y)-box 11
SPEG SPEG complex locus
SPP1 secreted phosphoprotein 1
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
TLR4 toll-like receptor 4
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
WWTR1 WW domain containing transcription regulator 1
ZFPM2 zinc finger protein, FOG family member 2