abnormal pulmonary alveolar parenchyma morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages (Mammalian Phenotype Ontology, MP_0010901)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010901
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADGRF5 adhesion G protein-coupled receptor F5
BID BH3 interacting domain death agonist
BMPER BMP binding endothelial regulator
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CMKLR1 chemerin chemokine-like receptor 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTGF connective tissue growth factor
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
EGFR epidermal growth factor receptor
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
FSTL1 follistatin-like 1
GLI2 GLI family zinc finger 2
HBEGF heparin-binding EGF-like growth factor
HCK HCK proto-oncogene, Src family tyrosine kinase
HOPX HOP homeobox
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 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)
LHX4 LIM homeobox 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
LYZ lysozyme
MAPK6 mitogen-activated protein kinase 6
NABP2 nucleic acid binding protein 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
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)
PDGFA platelet-derived growth factor alpha polypeptide
PDPN podoplanin
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
RAB38 RAB38, member RAS oncogene family
S1PR3 sphingosine-1-phosphate receptor 3
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SNX5 sorting nexin 5
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
TMEM38B transmembrane protein 38B
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
WNT7B wingless-type MMTV integration site family, member 7B