Idiopathic Pulmonary Hypertension Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0152171
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADIPOQ adiponectin, C1Q and collagen domain containing
ADORA2A adenosine A2a receptor
ADORA2B adenosine A2b receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALOX5 arachidonate 5-lipoxygenase
ANO1 anoctamin 1, calcium activated chloride channel
AR androgen receptor
ATL3 atlastin GTPase 3
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRD2 bromodomain containing 2
CA9 carbonic anhydrase IX
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CFH complement factor H
CHDH choline dehydrogenase
CLIC4 chloride intracellular channel 4
CREB1 cAMP responsive element binding protein 1
CTBP1 C-terminal binding protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAAM1 dishevelled associated activator of morphogenesis 1
DCN decorin
DVL2 dishevelled segment polarity protein 2
DYM dymeclin
DYNLT1 dynein, light chain, Tctex-type 1
EDN1 endothelin 1
EDNRB endothelin receptor type B
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ELANE elastase, neutrophil expressed
ENG endoglin
ENO1 enolase 1, (alpha)
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPAS1 endothelial PAS domain protein 1
F10 coagulation factor X
F2R coagulation factor II (thrombin) receptor
F2RL1 coagulation factor II (thrombin) receptor-like 1
FGF2 fibroblast growth factor 2 (basic)
FGFR2 fibroblast growth factor receptor 2
FGL2 fibrinogen-like 2
FHL1 four and a half LIM domains 1
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FOSL2 FOS-like antigen 2
FOXM1 forkhead box M1
GDF15 growth differentiation factor 15
GDF2 growth differentiation factor 2
HAS2 hyaluronan synthase 2
HBG2 hemoglobin, gamma G
HDAC3 histone deacetylase 3
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HMGN1 high mobility group nucleosome binding domain 1
HOXA5 homeobox A5
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
HYAL2 hyaluronoglucosaminidase 2
ICAM1 intercellular adhesion molecule 1
IGF1R insulin-like growth factor 1 receptor
IL21 interleukin 21
IL22 interleukin 22
IL33 interleukin 33
IL6 interleukin 6
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNK3 potassium channel, two pore domain subfamily K, member 3
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KNG1 kininogen 1
LGALS3 lectin, galactoside-binding, soluble, 3
LIMK1 LIM domain kinase 1
LOX lysyl oxidase
LRP1 low density lipoprotein receptor-related protein 1
MAPK3 mitogen-activated protein kinase 3
MSH2 mutS homolog 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NPS neuropeptide S
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAH phenylalanine hydroxylase
PDE3B phosphodiesterase 3B, cGMP-inhibited
PDE5A phosphodiesterase 5A, cGMP-specific
PDGFA platelet-derived growth factor alpha polypeptide
PLG plasminogen
POU5F1 POU class 5 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
PVR poliovirus receptor
RBM45 RNA binding motif protein 45
REN renin
RNPEP arginyl aminopeptidase (aminopeptidase B)
RPSA ribosomal protein SA
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SFXN1 sideroflexin 1
SLC52A1 solute carrier family 52 (riboflavin transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLPI secretory leukocyte peptidase inhibitor
SMAD1 SMAD family member 1
SMAD4 SMAD family member 4
SMAD9 SMAD family member 9
SNAI1 snail family zinc finger 1
SNAI2 snail family zinc finger 2
SOD1 superoxide dismutase 1, soluble
SOD3 superoxide dismutase 3, extracellular
SP1 Sp1 transcription factor
SPP1 secreted phosphoprotein 1
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TBX4 T-box 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP4 TIMP metallopeptidase inhibitor 4
TK1 thymidine kinase 1, soluble
TNF tumor necrosis factor
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TOPBP1 topoisomerase (DNA) II binding protein 1
TP53 tumor protein p53
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TWIST1 twist family bHLH transcription factor 1
VDAC1 voltage-dependent anion channel 1
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
VTN vitronectin
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta