Bronchopulmonary Dysplasia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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Genes

69 genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACE angiotensin I converting enzyme
ADORA1 adenosine A1 receptor
ADORA2A adenosine A2a receptor
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FGF18 fibroblast growth factor 18
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FGFR4 fibroblast growth factor receptor 4
GPR1 G protein-coupled receptor 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL12A interleukin 12A
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL18RAP interleukin 18 receptor accessory protein
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
LTA lymphotoxin alpha
MBL2 mannose-binding lectin (protein C) 2, soluble
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NOS3 nitric oxide synthase 3 (endothelial cell)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PLAU plasminogen activator, urokinase
SELE selectin E
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SIRPA signal-regulatory protein alpha
SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TGFB1 transforming growth factor, beta 1
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR1 toll-like receptor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR6 toll-like receptor 6
TNF tumor necrosis factor
TTF1 transcription termination factor, RNA polymerase I
VEGFA vascular endothelial growth factor A