Bronchopulmonary Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. (Orphanet Rare Disease Ontology, Orphanet_70589)
External Link https://www.disgenet.org/browser/0/1/0/C0006287
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Genes

388 genes associated with the disease Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACE angiotensin I converting enzyme
ACKR3 atypical chemokine receptor 3
ACOT7 acyl-CoA thioesterase 7
ACTB actin, beta
ACTBL2 actin, beta-like 2
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADCY2 adenylate cyclase 2 (brain)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOR1 adiponectin receptor 1
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
ADRBK2 adrenergic, beta, receptor kinase 2
AGBL1 ATP/GTP binding protein-like 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHR aryl hydrocarbon receptor
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ANGPT1 angiopoietin 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANXA1 annexin A1
APOE apolipoprotein E
ARG1 arginase 1
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
ATF4 activating transcription factor 4
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BID BH3 interacting domain death agonist
BMP7 bone morphogenetic protein 7
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BOC BOC cell adhesion associated, oncogene regulated
BPI bactericidal/permeability-increasing protein
BRD1 bromodomain containing 1
BRS3 bombesin-like receptor 3
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALB2 calbindin 2
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAT catalase
CCL13 chemokine (C-C motif) ligand 13
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL2 chemokine (C-C motif) ligand 2
CCL24 chemokine (C-C motif) ligand 24
CCN1 cellular communication network factor 1
CCN2 cellular communication network factor 2
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD44 CD44 molecule (Indian blood group)
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CENPJ centromere protein J
CEP85L centrosomal protein 85kDa-like
CFL1 cofilin 1 (non-muscle)
CHDH choline dehydrogenase
CHRM2 cholinergic receptor, muscarinic 2
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLDN18 claudin 18
CLOCK clock circadian regulator
CLU clusterin
CMKLR1 chemerin chemokine-like receptor 1
COMT catechol-O-methyltransferase
COX2
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CRP C-reactive protein, pentraxin-related
CRYZ crystallin, zeta (quinone reductase)
CSF3 colony stimulating factor 3 (granulocyte)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSG cathepsin G
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR6 chemokine (C-X-C motif) receptor 6
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDAH1 dimethylarginine dimethylaminohydrolase 1
DDAH2 dimethylarginine dimethylaminohydrolase 2
DDIT3 DNA-damage-inducible transcript 3
DDT D-dopachrome tautomerase
DGKH diacylglycerol kinase, eta
DISC1 disrupted in schizophrenia 1
DLL4 delta-like 4 (Drosophila)
DMD dystrophin
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPYSL2 dihydropyrimidinase-like 2
DRD4 dopamine receptor D4
DUSP1 dual specificity phosphatase 1
DUSP5 dual specificity phosphatase 5
DYM dymeclin
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGFR epidermal growth factor receptor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELANE elastase, neutrophil expressed
ELN elastin
EML2 echinoderm microtubule associated protein like 2
EML5 echinoderm microtubule associated protein like 5
ENG endoglin
EPAS1 endothelial PAS domain protein 1
EPHA1 EPH receptor A1
EPO erythropoietin
ERBB4 erb-b2 receptor tyrosine kinase 4
ESAM endothelial cell adhesion molecule
ETNPPL ethanolamine-phosphate phospho-lyase
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F11R F11 receptor
F2RL1 coagulation factor II (thrombin) receptor-like 1
F3 coagulation factor III (thromboplastin, tissue factor)
FADS1 fatty acid desaturase 1
FGF10 fibroblast growth factor 10
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FGFR4 fibroblast growth factor receptor 4
FHL5 four and a half LIM domains 5
FKBP5 FK506 binding protein 5
FLNA filamin A, alpha
FN1 fibronectin 1
FOXF1 forkhead box F1
FOXF2 forkhead box F2
FOXM1 forkhead box M1
FPR1 formyl peptide receptor 1
G6PD glucose-6-phosphate dehydrogenase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GATA6 GATA binding protein 6
GC group-specific component (vitamin D binding protein)
GCG glucagon
GCH1 GTP cyclohydrolase 1
GDF2 growth differentiation factor 2
GFAP glial fibrillary acidic protein
GLP1R glucagon-like peptide 1 receptor
GNAS GNAS complex locus
GPC1 glypican 1
GPNMB glycoprotein (transmembrane) nmb
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GRIK2 glutamate receptor, ionotropic, kainate 2
GRN granulin
GRP gastrin-releasing peptide
GSK3B glycogen synthase kinase 3 beta
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GSTZ1 glutathione S-transferase zeta 1
HDAC1 histone deacetylase 1
HDAC2 histone deacetylase 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HPGDS hematopoietic prostaglandin D synthase
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL17A interleukin 17A
IL17F interleukin 17F
IL18 interleukin 18
IL18BP interleukin 18 binding protein
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL1RN interleukin 1 receptor antagonist
IL33 interleukin 33
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
IMPA2 inositol(myo)-1(or 4)-monophosphatase 2
INTU inturned planar cell polarity protein
IPO13 importin 13
IRAK1 interleukin-1 receptor-associated kinase 1
KANK4 KN motif and ankyrin repeat domains 4
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LCT lactase
LDHA lactate dehydrogenase A
LEF1 lymphoid enhancer-binding factor 1
LEP leptin
LGALS1 lectin, galactoside-binding, soluble, 1
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMAN2L lectin, mannose-binding 2-like
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
LOXL2 lysyl oxidase-like 2
LPAR1 lysophosphatidic acid receptor 1
LPAR2 lysophosphatidic acid receptor 2
LRPPRC leucine-rich pentatricopeptide repeat containing
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MCHR1 melanin-concentrating hormone receptor 1
MCPH1 microcephalin 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MINOS1-NBL1 MINOS1-NBL1 readthrough
MIXL1 Mix paired-like homeobox
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MPPE1 metallophosphoesterase 1
MSC musculin
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MZB1 marginal zone B and B1 cell-specific protein
NBL1 neuroblastoma 1, DAN family BMP antagonist
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH3 notch 3
NOV nephroblastoma overexpressed
NPAS3 neuronal PAS domain protein 3
NPSR1 neuropeptide S receptor 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRG1 neuregulin 1
NRN1 neuritin 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
P2RX1 purinergic receptor P2X, ligand gated ion channel, 1
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
P2RX3 purinergic receptor P2X, ligand gated ion channel, 3
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RX5 purinergic receptor P2X, ligand gated ion channel, 5
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY2 purinergic receptor P2Y, G-protein coupled, 2
PC pyruvate carboxylase
PCNA proliferating cell nuclear antigen
PDE10A phosphodiesterase 10A
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM5 PDZ and LIM domain 5
PECAM1 platelet/endothelial cell adhesion molecule 1
PER2 period circadian clock 2
PFN1 profilin 1
PINK1 PTEN induced putative kinase 1
PLA2G10 phospholipase A2, group X
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLCG1 phospholipase C, gamma 1
PLG plasminogen
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POMC proopiomelanocortin
POSTN periostin, osteoblast specific factor
POTEM POTE ankyrin domain family, member M
PPARG peroxisome proliferator-activated receptor gamma
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS2 protease, serine, 2 (trypsin 2)
PRTN3 proteinase 3
PTBP1 polypyrimidine tract binding protein 1
PTBP2 polypyrimidine tract binding protein 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
RAB40B RAB40B, member RAS oncogene family
RARA retinoic acid receptor, alpha
RELN reelin
REN renin
RIPK3 receptor-interacting serine-threonine kinase 3
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RPP14 ribonuclease P/MRP 14kDa subunit
S100A9 S100 calcium binding protein A9
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCGB3A2 secretoglobin, family 3A, member 2
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SF3B6 splicing factor 3b, subunit 6, 14kDa
SFTPA1 surfactant protein A1
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SGSM3 small G protein signaling modulator 3
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHANK2 SH3 and multiple ankyrin repeat domains 2
SIPA1 signal-induced proliferation-associated 1
SIRT1 sirtuin 1
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOD3 superoxide dismutase 3, extracellular
SOX4 SRY (sex determining region Y)-box 4
SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2
SST somatostatin
SSTR4 somatostatin receptor 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUB1 SUB1 homolog (S. cerevisiae)
SUMO1 small ubiquitin-like modifier 1
SUMO2 small ubiquitin-like modifier 2
SYBU syntabulin (syntaxin-interacting)
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNJ1 synaptojanin 1
TAC1 tachykinin, precursor 1
TENM4 teneurin transmembrane protein 4
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
TH tyrosine hydroxylase
THBS1 thrombospondin 1
THY1 Thy-1 cell surface antigen
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR6 toll-like receptor 6
TNC tenascin C
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TP53 tumor protein p53
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TRAF1 TNF receptor-associated factor 1
TREM1 triggering receptor expressed on myeloid cells 1
TSPAN8 tetraspanin 8
TST thiosulfate sulfurtransferase (rhodanese)
TXN thioredoxin
TXNRD1 thioredoxin reductase 1
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UTS2R urotensin 2 receptor
VAMP7 vesicle-associated membrane protein 7
VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa
VASP vasodilator-stimulated phosphoprotein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WASH1 WAS protein family homolog 1
WISP2 WNT1 inducible signaling pathway protein 2
XBP1 X-box binding protein 1
ZBED4 zinc finger, BED-type containing 4
ZDHHC8 zinc finger, DHHC-type containing 8
ZGLP1 zinc finger, GATA-like protein 1
ZNF410 zinc finger protein 410
ZNF804A zinc finger protein 804A