emphysema Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0002097
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Genes

30 genes associated with the emphysema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CD19 CD19 molecule
CD81 CD81 molecule
CDT1 chromatin licensing and DNA replication factor 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
DNASE1L3 deoxyribonuclease I-like 3
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FLCN folliculin
GLA galactosidase, alpha
ICOS inducible T-cell co-stimulator
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LTBP4 latent transforming growth factor beta binding protein 4
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
PRKCD protein kinase C, delta
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SPINK5 serine peptidase inhibitor, Kazal type 5
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TGFB2 transforming growth factor, beta 2
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2