Pulmonary Emphysema Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0034067
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Genes

331 genes associated with the disease Pulmonary Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABHD2 abhydrolase domain containing 2
ABI3BP ABI family, member 3 (NESH) binding protein
ACE angiotensin I converting enzyme
ACP3 acid phosphatase 3
ACVR1B activin A receptor, type IB
ADAM9 ADAM metallopeptidase domain 9
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALB albumin
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase
AMOTL1 angiomotin like 1
ANGPT1 angiopoietin 1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOA1 apolipoprotein A-I
APOM apolipoprotein M
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BICD1 bicaudal D homolog 1 (Drosophila)
BLVRA biliverdin reductase A
BMP1 bone morphogenetic protein 1
BSG basigin (Ok blood group)
C3 complement component 3
C3AR1 complement component 3a receptor 1
CADM1 cell adhesion molecule 1
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCN1 cellular communication network factor 1
CD14 CD14 molecule
CD207 CD207 molecule, langerin
CD274 CD274 molecule
CD34 CD34 molecule
CD46 CD46 molecule, complement regulatory protein
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDT1 chromatin licensing and DNA replication factor 1
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7
CELA1 chymotrypsin-like elastase family, member 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CH25H cholesterol 25-hydroxylase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLEC4D C-type lectin domain family 4, member D
CLOCK clock circadian regulator
CLPTM1L CLPTM1-like
CNR1 cannabinoid receptor 1 (brain)
COMMD1 copper metabolism (Murr1) domain containing 1
CRP C-reactive protein, pentraxin-related
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSE cathepsin E
CTSS cathepsin S
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL8 chemokine (C-X-C motif) ligand 8
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DCTN4 dynactin 4 (p62)
DDIT3 DNA-damage-inducible transcript 3
DDIT4 DNA-damage-inducible transcript 4
DEXI Dexi homolog (mouse)
DNER delta/notch-like EGF repeat containing
DNM1L dynamin 1-like
DSP desmoplakin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ELN elastin
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPHX2 epoxide hydrolase 2, cytoplasmic
F2R coagulation factor II (thrombin) receptor
FAM13A family with sequence similarity 13, member A
FAS Fas cell surface death receptor
FBL fibrillarin
FBLN5 fibulin 5
FBN1 fibrillin 1
FDPS farnesyl diphosphate synthase
FES FES proto-oncogene, tyrosine kinase
FEV FEV (ETS oncogene family)
FGF7 fibroblast growth factor 7
FGFR1 fibroblast growth factor receptor 1
FLCN folliculin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOSL1 FOS-like antigen 1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FSTL1 follistatin-like 1
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GCG glucagon
GLP1R glucagon-like peptide 1 receptor
GPR183 G protein-coupled receptor 183
GPX1 glutathione peroxidase 1
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GULP1 GULP, engulfment adaptor PTB domain containing 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
H2AX H2A.X variant histone
HBEGF heparin-binding EGF-like growth factor
HDAC10 histone deacetylase 10
HDAC2 histone deacetylase 2
HDAC4 histone deacetylase 4
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHIP hedgehog interacting protein
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HMOX1 heme oxygenase 1
HPX hemopexin
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP3 insulin-like growth factor binding protein 3
IGFBP5 insulin-like growth factor binding protein 5
IGFBP7 insulin-like growth factor binding protein 7
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL10 interleukin 10
IL13 interleukin 13
IL16 interleukin 16
IL17A interleukin 17A
IL17RA interleukin 17 receptor A
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1B interleukin 1, beta
IL33 interleukin 33
IL37 interleukin 37
IL4 interleukin 4
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IRF3 interferon regulatory factor 3
ISYNA1 inositol-3-phosphate synthase 1
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
ITGB6 integrin, beta 6
JAK2 Janus kinase 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KDR kinase insert domain receptor
KEAP1 kelch-like ECH-associated protein 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIF20B kinesin family member 20B
KL klotho
KLF10 Kruppel-like factor 10
KLF9 Kruppel-like factor 9
LCN1 lipocalin 1
LGALS9 lectin, galactoside-binding, soluble, 9
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LMAN2L lectin, mannose-binding 2-like
LOC105371045 uncharacterized LOC105371045
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
LOXL2 lysyl oxidase-like 2
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAN1C1 mannosidase, alpha, class 1C, member 1
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAPK3 mitogen-activated protein kinase 3
MARK2 MAP/microtubule affinity-regulating kinase 2
MBTPS1 membrane-bound transcription factor peptidase, site 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MMP1 matrix metallopeptidase 1
MMP10 matrix metallopeptidase 10
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP28 matrix metallopeptidase 28
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MOK MOK protein kinase
MPHOSPH10 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)
MPO myeloperoxidase
MRPS30 mitochondrial ribosomal protein S30
MSC musculin
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTPAP mitochondrial poly(A) polymerase
MYD88 myeloid differentiation primary response 88
MYH10 myosin, heavy chain 10, non-muscle
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX2-1 NK2 homeobox 1
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPSR1 neuropeptide S receptor 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR4A1 nuclear receptor subfamily 4, group A, member 1
NREP neuronal regeneration related protein
NUP62 nucleoporin 62kDa
OAZ1 ornithine decarboxylase antizyme 1
ORC4 origin recognition complex, subunit 4
PALD1 phosphatase domain containing, paladin 1
PAPOLA poly(A) polymerase alpha
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PCSK9 proprotein convertase subtilisin/kexin type 9
PDAP1 PDGFA associated protein 1
PDGFA platelet-derived growth factor alpha polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PGF placental growth factor
PGPEP1 pyroglutamyl-peptidase I
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PINK1 PTEN induced putative kinase 1
PLAGL2 pleiomorphic adenoma gene-like 2
PLTP phospholipid transfer protein
PPARG peroxisome proliferator-activated receptor gamma
PPT2 palmitoyl-protein thioesterase 2
PRCP prolylcarboxypeptidase (angiotensinase C)
PRMT6 protein arginine methyltransferase 6
PRTN3 proteinase 3
PSG2 pregnancy specific beta-1-glycoprotein 2
PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5
PTEN phosphatase and tensin homolog
PTMA prothymosin, alpha
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRO protein tyrosine phosphatase, receptor type, O
REG3A regenerating islet-derived 3 alpha
RGN regucalcin
RHO rhodopsin
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RNF5 ring finger protein 5, E3 ubiquitin protein ligase
S100A4 S100 calcium binding protein A4
S100A8 S100 calcium binding protein A8
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SESN2 sestrin 2
SFRP1 secreted frizzled-related protein 1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SFXN1 sideroflexin 1
SGMS2 sphingomyelin synthase 2
SIGLEC9 sialic acid binding Ig-like lectin 9
SIRT1 sirtuin 1
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLIT2 slit homolog 2 (Drosophila)
SLPI secretory leukocyte peptidase inhibitor
SMAD3 SMAD family member 3
SMAD7 SMAD family member 7
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)
SMS spermine synthase
SNRPF small nuclear ribonucleoprotein polypeptide F
SOAT1 sterol O-acyltransferase 1
SOD1 superoxide dismutase 1, soluble
SQSTM1 sequestosome 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SYBU syntabulin (syntaxin-interacting)
TAZ tafazzin
TBPL1 TBP-like 1
TDP1 tyrosyl-DNA phosphodiesterase 1
TERF2 telomeric repeat binding factor 2
TERT telomerase reverse transcriptase
TFEB transcription factor EB
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TM7SF2 transmembrane 7 superfamily member 2
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TPP1 tripeptidyl peptidase I
TUSC2 tumor suppressor candidate 2
TXN thioredoxin
VCAN versican
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WNT3A wingless-type MMTV integration site family, member 3A
XK X-linked Kx blood group
XPR1 xenotropic and polytropic retrovirus receptor 1
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZBTB7C zinc finger and BTB domain containing 7C
ZGLP1 zinc finger, GATA-like protein 1
ZNF816 zinc finger protein 816