abnormal pulmonary acinus morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches (Mammalian Phenotype Ontology, MP_0010911)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010911
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Genes

183 gene mutations causing the abnormal pulmonary acinus 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)
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
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
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
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
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)
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TCF21 transcription factor 21
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