abnormal pulmonary alveolar system morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the portion of the lung comprised of the pulmonary acinus and the alveolar parenchyma (Mammalian Phenotype Ontology, MP_0010899)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010899
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Genes

190 gene mutations causing the abnormal pulmonary alveolar system morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ADA adenosine deaminase
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADGRF5 adhesion G protein-coupled receptor F5
ADRA2B adrenoceptor alpha 2B
AFF4 AF4/FMR2 family, member 4
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOE apolipoprotein E
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1L ataxin 1-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BID BH3 interacting domain death agonist
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C11ORF73 chromosome 11 open reading frame 73
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CBY1 chibby homolog 1 (Drosophila)
CDO1 cysteine dioxygenase type 1
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPG CCAAT/enhancer binding protein (C/EBP), gamma
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIC capicua transcriptional repressor
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIC5 chloride intracellular channel 5
CMKLR1 chemerin chemokine-like receptor 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
CRB3 crumbs family member 3
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CTGF connective tissue growth factor
CTSA cathepsin A
CTSK cathepsin K
CUX1 cut-like homeobox 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DBNL drebrin-like
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DMRT2 doublesex and mab-3 related transcription factor 2
DOK7 docking protein 7
DPPA4 developmental pluripotency associated 4
DUSP1 dual specificity phosphatase 1
EDN2 endothelin 2
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGFR epidermal growth factor receptor
ELN elastin
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
ESR2 estrogen receptor 2 (ER beta)
FAM20A family with sequence similarity 20, member A
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FOXP2 forkhead box P2
FSTL1 follistatin-like 1
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
GAK cyclin G associated kinase
GLCE glucuronic acid epimerase
GLI2 GLI family zinc finger 2
GRB10 growth factor receptor-bound protein 10
GREM1 gremlin 1, DAN family BMP antagonist
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
HAT1 histone acetyltransferase 1
HBEGF heparin-binding EGF-like growth factor
HCK HCK proto-oncogene, Src family tyrosine kinase
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHIP hedgehog interacting protein
HIF3A hypoxia inducible factor 3, alpha subunit
HMGN5 high mobility group nucleosome binding domain 5
HOPX HOP homeobox
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 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)
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGB6 integrin, beta 6
KDM6B lysine (K)-specific demethylase 6B
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX4 LIM homeobox 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNB1 lamin B1
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRRK2 leucine-rich repeat kinase 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
LYZ lysozyme
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MEG3 maternally expressed 3 (non-protein coding)
MEX3C mex-3 RNA binding family member C
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MORF4L1 mortality factor 4 like 1
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
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PAX3 paired box 3
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPN podoplanin
PECAM1 platelet/endothelial cell adhesion molecule 1
PHF14 PHD finger protein 14
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKDCC protein kinase domain containing, cytoplasmic
PLA2G15 phospholipase A2, group XV
POLB polymerase (DNA directed), beta
PRDX6 peroxiredoxin 6
PROP1 PROP paired-like homeobox 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAB38 RAB38, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARB retinoic acid receptor, beta
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RGN regucalcin
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
S1PR3 sphingosine-1-phosphate receptor 3
SEPN1 selenoprotein N, 1
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SGPL1 sphingosine-1-phosphate lyase 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNX5 sorting nexin 5
SOCS1 suppressor of cytokine signaling 1
SP3 Sp3 transcription factor
SP6 Sp6 transcription factor
SPTA1 spectrin, alpha, erythrocytic 1
SSR3 signal sequence receptor, gamma (translocon-associated protein gamma)
STK40 serine/threonine kinase 40
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TCF21 transcription factor 21
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB3 transforming growth factor, beta 3
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNS3 tensin 3
TOM1L2 target of myb1-like 2 (chicken)
TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast)
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
VEGFA vascular endothelial growth factor A
WNT7B wingless-type MMTV integration site family, member 7B
WWTR1 WW domain containing transcription regulator 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2