overexpanded pulmonary alveoli Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description expanded volume of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries (Mammalian Phenotype Ontology, MP_0001183)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001183
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Genes

32 gene mutations causing the overexpanded pulmonary alveoli phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
CBY1 chibby homolog 1 (Drosophila)
CEBPG CCAAT/enhancer binding protein (C/EBP), gamma
CTSA cathepsin A
ELN elastin
ERRFI1 ERBB receptor feedback inhibitor 1
FBLN1 fibulin 1
FBN1 fibrillin 1
FOXP2 forkhead box P2
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
ITGB6 integrin, beta 6
LOXL1 lysyl oxidase-like 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NEUROD1 neuronal differentiation 1
NPAS3 neuronal PAS domain protein 3
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
SFTPC surfactant protein C
SFTPD surfactant protein D
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TIMP3 TIMP metallopeptidase inhibitor 3
TMTC3 transmembrane and tetratricopeptide repeat containing 3
WWTR1 WW domain containing transcription regulator 1