abnormal lung alveolus development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways (Mammalian Phenotype Ontology, MP_0010995)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010995
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Genes

41 gene mutations causing the abnormal lung alveolus development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BAG6 BCL2-associated athanogene 6
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
CREB1 cAMP responsive element binding protein 1
DHCR7 7-dehydrocholesterol reductase
EGFR epidermal growth factor receptor
ELN elastin
ERRFI1 ERBB receptor feedback inhibitor 1
FBLN1 fibulin 1
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXF1 forkhead box F1
FOXP2 forkhead box P2
GAK cyclin G associated kinase
HBEGF heparin-binding EGF-like growth factor
HIF3A hypoxia inducible factor 3, alpha subunit
HOPX HOP homeobox
HOXA5 homeobox A5
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNB1 lamin B1
LYST lysosomal trafficking regulator
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
NEUROD1 neuronal differentiation 1
NPAS3 neuronal PAS domain protein 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PDGFA platelet-derived growth factor alpha polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PKDCC protein kinase domain containing, cytoplasmic
PTGES3 prostaglandin E synthase 3 (cytosolic)
RARB retinoic acid receptor, beta
RC3H2 ring finger and CCCH-type domains 2
SAFB scaffold attachment factor B
TGFB3 transforming growth factor, beta 3
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
WWTR1 WW domain containing transcription regulator 1