Idiopathic Pulmonary Fibrosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. (Human Disease Ontology, DOID_0050156)
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Genes

46 genes associated with the Idiopathic Pulmonary Fibrosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ATP11A ATPase, class VI, type 11A
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL5 chemokine (C-X-C motif) ligand 5
DPP9 dipeptidyl-peptidase 9
DSP desmoplakin
EGFR epidermal growth factor receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IFNG interferon, gamma
IL10 interleukin 10
IL12A interleukin 12A
IL13 interleukin 13
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
MAPT-AS1 MAPT antisense RNA 1
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MMP1 matrix metallopeptidase 1
MMP7 matrix metallopeptidase 7
MUC5B mucin 5B, oligomeric mucus/gel-forming
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTX3 pentraxin 3, long
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SPPL2C signal peptide peptidase like 2C
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TLR3 toll-like receptor 3
TNF tumor necrosis factor
TOLLIP toll interacting protein
TP53 tumor protein p53
VEGFA vascular endothelial growth factor A