emphysema Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. (Experimental Factor Ontology, EFO_0000464)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001958
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Genes

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

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADGRF5 adhesion G protein-coupled receptor F5
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
C11ORF73 chromosome 11 open reading frame 73
CRHR1 corticotropin releasing hormone receptor 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DBNL drebrin-like
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
FBLN5 fibulin 5
FBN1 fibrillin 1
FLNA filamin A, alpha
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
HCK HCK proto-oncogene, Src family tyrosine kinase
HMGN5 high mobility group nucleosome binding domain 5
HOXA5 homeobox A5
ITGB6 integrin, beta 6
KL klotho
LIPA lipase A, lysosomal acid, cholesterol esterase
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
NPAS3 neuronal PAS domain protein 3
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
RGN regucalcin
SFTPC surfactant protein C
SFTPD surfactant protein D
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TOM1L2 target of myb1-like 2 (chicken)
WWTR1 WW domain containing transcription regulator 1