Primary Pulmonary Hypertension malady

NIH Rare Diseases: Idiopathic pulmonary hypertension is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of idiopathic pulmonary hypertension occur in individuals with no known family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals.³⁰

MalaCards: Primary Pulmonary Hypertension, also known as sporadic primary pulmonary hypertension, is related to pulmonary hypertension and connective tissue disease. An important gene associated with Primary Pulmonary Hypertension is BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase)), and among its related pathways are PPAR Pathway and Signaling by BMP. The drugs alprostadil and hydralazine and the compounds nitroglycerin and hirudin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Genetics Home Reference: Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, pressure increases in the pulmonary artery and in the heart chamber that pumps blood into the pulmonary artery (the right ventricle).¹⁷

OMIM: 178600

Aliases & Descriptions:

primary pulmonary hypertension 6 44 30 17 8 32 43 sporadic primary pulmonary hypertension 44 17 43 idiopathic pulmonary hypertension 44 30 17 pulmonary arterial hypertension 44 30 17 ayerza syndrome 44 17 43 pph 44 30 17 familial primary pulmonary hypertension 17 43 pulmonary hypertension 44 43 pah 30 17

familial primary pulmonary hypertension (fpph) 44 idiopathic pulmonary arterial hypertension 30 primary pulmonary hypertension (disorder) 6 pulmonary hypertension, familial primary 33 pulmonary hypertension, idiopathic 6 pulmonary hypertension (& ) 6 pulmonary hypertension, primary 33 fpph 17

Diseases related to primary pulmonary hypertension by text searches and GeneDecks gene sharing:

(show top 50)    (show all 581)

id	Related Disease	Score	Top Affiliating Genes
1	pulmonary hypertension	36.4	PDE4A, BMP2, BMP4, BMPR2, FGA, PTGIS
2	connective tissue disease	33.6	BMP6, BMPR2, FBN1, EDN1, ACVRL1, TGFBR2
3	telangiectasis	30.9	BMP6, BMPR2, ACVRL1
4	thromboembolism	30.7	VWF, SELP, SERPINE1, FGA, F5, F3
5	mixed connective tissue disease	30.7	BMPR2, FBN1, TRIM21, ACVRL1
6	congestive heart failure	30.6	PDE5A, EDN1, ACE, NPPA, NPPB, ADM
7	cor pulmonale	30.6	VWF, EDN1, ACE, NPPA, NPPB
8	interstitial lung disease	30.6	BMP6, CCL2, CCL3, EDN1, TGFB1
9	hereditary hemorrhagic telangiectasia	30.2	BMP6, BMPR2, ACVRL1, TGFB1
10	glycogen storage disease	30.1	VWF, BMP6, BMPR2, F3, F2
11	patent foramen ovale	29.7	FGA, F5, F2, PLAT
12	arteriovenous malformation	29.5	F2, SMAD4, PLAT, EDN1, ACVRL1, TGFBR2
13	gaucher's disease	29.3	BMP4, CCL2, F5, F2, ACE
14	vitiligo	28.8	BMP6, AIRE, CTLA4, EDN1, ACE, TGFBR2
15	erythrocytosis	28.7	SELP, F5, ACE, TIMP1, THBD
16	pulmonary emphysema	28.5	EDN1, ELANE, TGFBR3, NPPA
17	priapism	28.4	PDE4A, F5, PDE5A, TGFBR3
18	hernia	28.3	FBN1, CCL2, F3, F2, EDN1, ACE
19	systemic lupus erythematosus	28.2	VWF, FGA, FBN1, CCL2, CCL3, ICOS
20	takayasu's arteritis	27.8	SELP, F3, F2, EDN1
21	hemolytic anemia	27.8	VWF, F5, F3, F2, HBG2, THBD
22	chronic obstructive pulmonary disease	27.7	PDE4A, CCL2, CCL3, PDE5A, ELANE, TIMP1
23	systemic lupus erythematosus, association with	27.5	SERPINE1, F3, PLAT, TIMP1, THBD
24	pheochromocytoma	27.3	SERPINE1, BMP4, EDN1, ACE, ACVR2A, ACVR1
25	eisenmenger syndrome	27.2	VWF, BMPR2, EDN1, ACE, THBD, TGFB1
26	myelofibrosis	27.2	BMP2, BMP6, BMP7, BMPR1B, PF4, TIMP1
27	respiratory failure	27.2	F5, F3, F2, PLAT, EDN1, ACE
28	polymyositis	27.0	VWF, CCL2, CCL3, ALOX5, CTLA4
29	emphysema	26.9	SERPINE1, BMP6, FBN1, CCL2, HOXA5, HOXB2
30	sleep apnea	26.7	VWF, SELP, SERPINE1, CCL2, PF4, EDN1
31	apnea	26.7	VWF, SELP, SERPINE1, CCL2, PF4, EDN1
32	pulmonary function	26.7	F5, F2, EDN1, ACE, ELANE, TIMP1
33	amyloidosis	26.6	VWF, FGA, FBN1, F5, TGFB1, NPPA
34	sarcoidosis	26.4	SELP, CCL2, CCL3, ALOX5, CTLA4, EDN1
35	primary biliary cirrhosis	26.2	BMP6, ICOS, F3, F2, CTLA4, EDN1
36	esophageal cancer	26.0	BMP6, F3, ALOX5, SMAD4, PF4, ELANE
37	copd	25.9	PDE4A, VWF, SELP, SERPINE1, BMP6, CCL2
38	thrombocytosis	25.8	VWF, SELP, FGA, F5, F3, F2
39	hematopoiesis	25.7	BMP4, BMP6, CCL3, SMAD4, PF4, ACE
40	aldosteronism	25.6	SERPINE1, BMP2, BMP4, BMP6, BMP7, BMPR2
41	pulmonary embolism	25.5	SERPINE1, FGA, F5, F3, F2, PLAT
42	insulin resistance	25.1	VWF, SELP, SERPINE1, BMP6, BMP7, APOC3
43	polycythemia	25.1	VWF, SELP, SERPINE1, F5, F3, F2
44	thrombocytopenia	24.7	VWF, SELP, SERPINE1, BMP6, FGA, F5
45	hepatopulmonary syndrome	24.3	VWF, SERPINE1, BMPR2, CCL2, F2, PTGIS
46	deep vein thrombosis	24.1	VWF, SELP, SERPINE1, FGA, F5, F3
47	sickle cell disease	23.7	VWF, SELP, SERPINE1, BMP4, BMP6, BMPR2
48	twinning	23.5	VWF, SERPINE1, BMPR2, F5, F3, F2
49	pulmonary fibrosis	22.9	VWF, SERPINE1, BMP4, BMP6, CCL2, CCL3
50	hypertension	22.9	PDE4A, VWF, BZW1, SELP, SERPINE1, BMP2

Clinical features from OMIM: 178600

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 alprostadil, bosentan, epoprostenol, epoprostenol sodium, hydralazine, hydralazine hydrochloride, nitroglycerin, treprostinil

MalaCards organs/tissues related to primary pulmonary hypertension:

²²

MGI Mouse Phenotypes related to primary pulmonary hypertension:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	10.0	ADM, ACVRL1, CTLA4, AIRE, FGA, BMP4
2	endocrine/exocrine gland phenotype	MP:0005379	9.8	ACVR2A, SMAD1, CTLA4, AIRE, HOXA5, SATB2
3	embryogenesis phenotype	MP:0005380	9.6	WNT2, ACVRL1, ACVR2A, SMAD9, HOXB2, F2
4	hematopoietic system phenotype	MP:0005397	9.5	BMP4, FBN1, ICOS, HOXA5, TGFBR3, ACVRL1
5	craniofacial phenotype	MP:0005382	9.4	ACVRL1, ACVR1, ACVR2A, EDN1, SMAD9, SMAD1
6	respiratory system phenotype	MP:0005388	9.4	ACVRL1, ACVR2A, SMAD9, HOXB2, FBN1, BMPR2
7	skeleton phenotype	MP:0005390	8.5	HOXA5, HOXB6, CTLA4, SMAD1, PLAT, TGFBR2
8	renal/urinary system phenotype	MP:0005367	8.3	ADM, NPPA, SMAD4, PTGIS, TRIM21, FBN1
9	reproductive system phenotype	MP:0005389	8.0	TGFBR3, TGFB1, TIMP1, ACVR2A, SMAD9, SMAD4
10	integument phenotype	MP:0010771	8.0	SLC6A4, CTLA4, PTGIR, TRIM21, F2, F3
11	muscle phenotype	MP:0005369	7.4	ACVRL1, TGFB1, TGFBR2, TGFBR3, NPPA, NPPB
12	normal phenotype	MP:0002873	7.2	SMAD1, SMAD4, SMAD9, ACVRL1, ELANE, THBD
13	immune system phenotype	MP:0005387	6.8	HOXB6, HOXA5, ALOX5AP, F2, CCL3, FBN1
14	vision/eye phenotype	MP:0005391	6.6	AIRE, PLAT, ABI2, ACVR2A, TGFB1, TGFBR2
15	tumorigenesis	MP:0002006	6.5	ACE, ELANE, TIMP1, TGFB1, TGFBR2, SMAD9
16	digestive/alimentary phenotype	MP:0005381	6.1	TGFBR2, AIRE, HOXA5, F2, ICOS, CCL3
17	growth/size phenotype	MP:0005378	6.0	SMAD1, SMAD4, SMAD9, PLAT, ACE, ACVR2A
18	behavior/neurological phenotype	MP:0005386	5.3	SMAD4, PLAT, ABI2, ACE, ACVR1, TGFB1
19	nervous system phenotype	MP:0003631	4.3	EDN1, PLAT, SMAD9, SMAD4, SMAD1, AIRE
20	cellular phenotype	MP:0005384	3.8	ABI2, PLAT, SMAD4, SMAD1, CTLA4, SUMO1
21	cardiovascular system phenotype	MP:0005385	2.7	NPPB, NPPA, TGFBR3, TGFBR2, TGFB1, THBD
22	homeostasis/metabolism phenotype	MP:0005376	2.2	VWF, ELANE, ACVRL1, ACVR2A, ACE, EDN1
23	mortality/aging	MP:0010768	1.9	ACVR2A, ACE, EDN1, PLAT, SMAD9, SMAD4

Articles related to primary pulmonary hypertension:

(show top 50)    (show all 68)

id	Title	Authors	Year	Affiliating Genes
1	Brain natriuretic peptide in primary pulmonary hypertension (16676101)	Greig D.... Salazar M.	2006	NPPB
2	BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (15965979)	Sankelo M.... Laitinen T.	2005	BMPR2
3	Continuous intravenous administration of a low dose of epoprostenol greatly decreased serum concentrations of endothelin-1 in primary pulmonary hypertension--a case report. (16193207)	Kakinuma Y.... Yamaguchi I.	2005	EDN1
4	Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. (15775752)	Cogan J.D.... Loyd J.E.	2005	BMPR2
5	Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension. (15170098)	Sugiyama S.... Kawase I.	2004	BMPR2
6	Epoprostenol therapy decreases elevated circulating l evels of monocyte chemoattractant protein-1 in patients with primary pulmonary hypertension. (14993777)	Katsushi H.... Tohru O.	2004	CCL2
7	Primary pulmonary hypertension in children may have a different genetic background than in adults. (15295086)	Grunig E.... Janssen B.	2004	BMPR2, PPH2
8	BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. (15146475)	Morisaki H.... Morisaki T.	2004	BMPR2
9	Drug therapy of primary pulmonary hypertension. (15049720)	Nagaya N.	2004	PTGIS
10	Clinical significance of brain natriuretic peptide in primary pulmonary hypertension. (14998614)	Leuchte H.H.... Behr J.	2004	NPPB
11	Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31. (12821254)	Rindermann M.... Janssen B.	2003	BMPR2, PPH2
12	Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hypertension: increased frequency and association with preserved haemodynamics. (12692750)	Abraham W.T.... Perryman M.B.	2003	ACE
13	Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. (14516151)	Abramowicz M.J.... Delcroix M.	2003	BMPR2
14	Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. (14583445)	Machado R.D.... Trembath R.C.	2003	BMPR2, DYNLT1
15	Effects and problems of continuous infusion of epopro stenol for patients with primary pulmonary hypertension. (12412996)	Takahashi T.... Shirato K.	2002	TIMP1, NPPB, NPPA
16	Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. (11940546)	Atkinson C.... Morrell N.W.	2002	BMPR2, BMP6
17	Hyperplasia of pulmonary artery smooth muscle cells is causally related to overexpression of the serotonin transporter in primary pulmonary hypertension. (11893722)	Eddahibi S.... Adnot S.	2002	SLC6A4
18	Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (12045205)	Rudarakanchana N.... Morrell N.W.	2002	BMP4, BMPR2
19	Circulating monocytes from patients with primary pulmonary hypertension are hyporesponsive. (12165280)	Raychaudhuri B.... Thomassen M.J.	2002	CCL3
20	Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension. (12139571)	Uehara R.... Eto Y.	2002	BMPR2
21	Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. (11602621)	Eddahibi S.... Adnot S.	2001	SLC6A4
22	BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (11115378)	Machado R.D.... Nichols W.C.	2001	BMPR2
23	Bone morphogenetic proteins, genetics and the pathophysiology of primary pulmonary hypertension. (11686884)	de Caestecker M.... Meyrick B.	2001	WNT2, BMPR2
24	Plasma brain natriuretic peptide as a prognostic indicator in patients with primary pulmonary hypertension (11255693)	Nagaya N.... Kangawa K.	2001	NPPB, NPPA
25	Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. (11484688)	Newman J.H.... Loyd J.E.	2001	BMPR2
26	Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension. (11139485)	Yeager M.E.... Tuder R.M.	2001	TGFBR2
27	Big endothelin-1 and endothelin-1 plasma levels are correlated with the severity of primary pulmonary hypertension. (11713135)	Rubens C.... Hoeffken G.	2001	EDN1
28	Linking a serotonin transporter polymorphism to vascular smooth muscle proliferation in patients with primary pulmonary hypertension. (11602617)	Rabinovitch M.	2001	SLC6A4
29	A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. (10964520)	Machado R.D.... Nichols W.C.	2000	BMPR2, SUMO1, SATB2
30	Fine specificity of anti-fibrillin-1 autoantibodies in primary pulmonary hypertension syndrome. (10849372)	Morse J.H.... Bona C.A.	2000	FBN1
31	Plasma brain natriuretic peptide as a parameter to as sess efficacy of continuous intravenous infusion of prostacyclin (epoprostenol) to treat severe primary pulmonary hypertension: a case report. (11289503)	Wakaumi M.... Kasanuki H.	2000	NPPB
32	Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF- beta family. (11015450)	Thomson J.R.... Nichols W.C.	2000	BMPR2
33	Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. (10973254)	Lane K.B.... Wheeler L.	2000	BMPR2
34	Plasma brain natriuretic peptide as a prognostic indicator in patients with primary pulmonary hypertension. (10952954)	Nagaya N.... Kangawa K.	2000	NPPB, NPPA
35	Soluble P-selectin - a marker of platelet activation and vessel wall injury: increase of soluble P-selectin in plasma of patients with myocardial infarction, massive atherosclerosis and primary pulmonary hypertension (10833791)	Semenov A.V.... Mazurov A.V.	2000	SELP, PF4
36	Continuous infusion of epoprostenol improves the net balance between pulmonary endothelin-1 clearance and release in primary pulmonary hypertension. (10385501)	Langleben D.... Long W.	1999	EDN1
37	Factor V Leiden is not common in patients diagnosed w ith primary pulmonary hypertension. (9864017)	Elliott C.G.... Pietra G.G.	1998	F5
38	5-Lipoxygenase and 5-lipoxygenase activating protein (FLAP) immunoreactivity in lungs from patients with primary pulmonary hypertension. (9445303)	Wright L.... Voelkel N.F.	1998	ALOX5AP, ALOX5
39	Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. (9054941)	Nichols W.C.... Loyd J.E.	1997	BMPR2
40	Primary pulmonary hypertension: improved long-term ef fects and survival with continuous intravenous epoprostenol infusion. (9247503)	Shapiro S.M.... Brundage B.H.	1997	TIMP1
41	Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. (9193425)	Morse J.H.... Nygaard T.G.	1997	BMPR2
42	Primary pulmonary hypertension: immunogenetic response to high-mobility group (HMG) proteins and histone. (8918589)	Morse J.H.... Fritzler M.J.	1996	HMGN2
43	Inhaled nitric oxide as a screening vasodilator agent in primary pulmonary hypertension. A dose-response study and comparison with p rostacyclin. (7842196)	Sitbon O.... Simonneau G.	1995	HBG2
44	Continuous infusion of prostacyclin decreases plasma levels of t-PA and PAI-1 in primary pulmonary hypertension. (7495094)	Boyer-Neumann C.... Simonneau G.	1995	PLAT, SERPINE1
45	Hemostatic system factors and endothelial function in primary pulmonary hypertension (7839024)	Collados Larumbe M.T.... Borbolla Escoboza J.R.	1994	THBD
46	Vascular remodeling in primary pulmonary hypertension. Potential role for transforming growth factor-beta. (8311113)	Botney M.D.... Gold L.I.	1994	TGFB1
47	Endothelin-1 in primary pulmonary hypertension and the Eisenmenger syndrome. (8430638)	Cacoub P.... Gandjbakhch I.	1993	EDN1
48	Primary pulmonary hypertension. Its association with microangiopathic hemolytic anemia and thrombocytopenia. (2043024)	Jubelirer S.J.	1991	F2, F3
49	Atrial natriuretic peptide in primary pulmonary hypertension. (2149841)	Morice A.H.... Higenbottam T.W.	1990	NPPA
50	Fibrinopeptide A levels indicative of pulmonary vascu lar thrombosis in patients with primary pulmonary hypertension. (2394005)	Eisenberg P.R.... Rich S.	1990	FGA

Genes related to primary pulmonary hypertension according to GeneCards:

(show top 50)    (show all 61)

id	Symbol	Description	Score	GeneCards Section Context
1	BMPR2	bone morphogenetic protein receptor, type II (serine/threonine kinase)	11.1	Summaries, Publications, Aliases & Descriptions
2	PPH2	primary pulmonary hypertension 2	11.1	Publications, Aliases & Descriptions
3	BMPR1B	bone morphogenetic protein receptor, type IB	11.1	Publications, Summaries
4	ACVRL1	activin A receptor type II-like 1	11.0	Publications
5	FGA	fibrinogen alpha chain	11.0	Publications
6	ADM	adrenomedullin	11.0	Publications
7	THBD	thrombomodulin	11.0	Publications
8	PDE5A	phosphodiesterase 5A, cGMP-specific	11.0
9	NPPB	natriuretic peptide B	11.0	Publications
10	FBN1	fibrillin 1	11.0	Publications
11	NPPA	natriuretic peptide A	11.0	Publications
12	BMP2	bone morphogenetic protein 2	11.0	Publications
13	ALOX5	arachidonate 5-lipoxygenase	11.0	Publications
14	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	11.0	Publications
15	EDN1	endothelin 1	11.0	Publications
16	BMP6	bone morphogenetic protein 6	11.0	Publications
17	DYNLT1	dynein, light chain, Tctex-type 1	11.0	Publications
18	HMGN2	high mobility group nucleosomal binding domain 2	11.0	Publications
19	HOXA5	homeobox A5	11.0	Publications
20	HOXB6	homeobox B6	11.0	Publications
21	HOXB2	homeobox B2	11.0	Publications
22	ATL3	atlastin GTPase 3	11.0	Disorders
23	AIRE	autoimmune regulator	11.0	Publications
24	ICOS	inducible T-cell co-stimulator	11.0	Publications
25	PTGIR	prostaglandin I2 (prostacyclin) receptor (IP)	11.0
26	WNT2	wingless-type MMTV integration site family member 2	11.0	Publications
27	TRAK2	trafficking protein, kinesin binding 2	11.0	Publications
28	SATB2	SATB homeobox 2	11.0	Publications
29	PTGIS	prostaglandin I2 (prostacyclin) synthase	11.0	Publications
30	ABI2	abl-interactor 2	11.0	Publications
31	TRIM21	tripartite motif containing 21	11.0	Publications
32	SMAD9	SMAD family member 9	11.0
33	BZW1	basic leucine zipper and W2 domains 1	11.0	Publications
34	SMAD1	SMAD family member 1	11.0
35	ACVR2A	activin A receptor, type IIA	11.0	Publications
36	PF4	platelet factor 4	11.0	Publications
37	ACVR1	activin A receptor, type I	11.0	Publications
38	HBG2	hemoglobin, gamma G	11.0	Publications
39	BMP4	bone morphogenetic protein 4	11.0	Publications
40	APOC3	apolipoprotein C-III	11.0	Publications
41	ALOX5AP	arachidonate 5-lipoxygenase-activating protein	11.0	Publications
42	SUMO1	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)	11.0	Publications
43	BMP7	bone morphogenetic protein 7	11.0	Publications
44	TGFBR3	transforming growth factor, beta receptor III	11.0	Publications
45	SMAD4	SMAD family member 4	11.0
46	CCL3	chemokine (C-C motif) ligand 3	11.0	Publications
47	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.0	Publications
48	TIMP1	TIMP metallopeptidase inhibitor 1	11.0	Publications
49	CTLA4	cytotoxic T-lymphocyte-associated protein 4	11.0	Publications
50	PDE4A	phosphodiesterase 4A, cAMP-specific	11.0

Pathways related to primary pulmonary hypertension according to GeneDecks:

(show top 50)    (show all 75)

id	Pathway	Score	Top Affiliating Genes
1	PPAR Pathway36	10.3	TGFBR3, PTGIR, BMP4, BMP2
2	Signaling by BMP38	10.3	SMAD9, SMAD4, SMAD1, BMPR2, BMPR1B, BMP2
3	Cardiomyocyte Differentiation through BMP Receptors36	10.3	NPPB, NPPA, BMPR2, BMPR1B, BMP7, BMP4
4	BMP Pathway36	10.1	ACVRL1, ACVR1, BMPR2, BMPR1B, BMP7, BMP4
5	Hedgehog signaling pathway20	10.1	WNT2, BMP7, BMP6, BMP4, BMP2
6	Cell adhesion Plasmin signaling10	10.0	TGFBR3, TGFBR2, PLAT, FGA
7	RAR-Gamma-RXR-Alpha Degradation36	10.0	PF4, CCL3, BMP7, BMP4, BMP2
8	Factors Promoting Cardiogenesis in Vertebrates36	9.8	NPPB, NPPA, TGFBR2, TGFB1, ACVR1, BMPR1B
9	Telomerase Components in Cell Signaling36	9.8	TGFBR3, TIMP1, BMP7, BMP6, BMP4, BMP2
10	Human Embryonic Stem Cell Pluripotency36	9.7	WNT2, BMP2, BMP4, BMP7, BMPR1B, BMPR2
11	PGC1Alpha Pathway36	9.7	BMP2, BMP4, BMP6, BMP7, CCL3
12	Extrinsic Prothrombin Activation Pathway36	9.7	THBD, F2, F3, F5, FGA
13	Th17 Differentiation37	9.6	TGFBR2, TGFB1, SMAD9, SMAD4, SMAD1
14	Cell adhesion_Plasmin signaling41	9.6	TGFBR3, TGFBR2, TGFB1, PLAT, FGA
15	SMAD Signaling Network36	9.5	TGFBR2, TGFB1, BMP7, BMP6, BMP4, BMP2
16	Apoptotic Pathways in Synovial Fibroblasts36	9.4	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
17	p53 Mediated Apoptosis36	9.4	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
18	MIF Mediated Glucocorticoid Regulation36	9.3	BMP4, BMP6, BMP7, CCL2, CCL3, PF4
19	MIF Regulation of Innate Immune Cells36	9.3	PF4, CCL3, CCL2, BMP7, BMP6, BMP4
20	PEDF Induced Signaling36	9.3	PF4, CCL3, CCL2, BMP7, BMP6, BMP4
21	all-trans-Retinoic Acid Signaling in Brain36	9.3	PF4, ALOX5, CCL3, CCL2, BMP7, BMP6
22	Rac1 Pathway36	9.3	TGFBR3, TGFB1, TIMP1, ABI2, BMP7, BMP6
23	Mitochondrial Apoptosis36	9.2	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
24	NFAT Signaling and Lymphocyte Interactions36	9.2	CCL3, CCL2, BMP7, BMP6, BMP4, BMP2
25	DHA Signaling36	9.2	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
26	TGF-beta/Smad Signaling3	9.2	TGFBR3, TGFBR2, TGFB1, ACVR1, SMAD9, SMAD4
27	Akt Signaling36	9.2	ACVRL1, ACVR1, PF4, CCL3, CCL2, BMPR2
28	IL-6 Pathway36	9.1	TIMP1, PF4, CCL3, CCL2, BMP7, BMP6
29	STAT3 Pathway36	9.1	ACVRL1, ACVR1, PF4, CCL3, CCL2, BMPR2
30	ERK5 Signaling36	9.1	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
31	p70S6K Signaling36	9.0	TGFBR3, TGFB1, TIMP1, HBG2, F2, BMP7
32	Endothelin-1 Signaling Pathway36	9.0	EDN1, PF4, F2, CCL3, CCL2, BMP7
33	Molecular Mechanisms of Cancer36	8.9	ACVR1, ACVRL1, TIMP1, TGFB1, TGFBR2, PF4
34	TGF-beta signaling pathway20	8.8	BMP2, TGFBR2, TGFB1, ACVR1, ACVR2A, SMAD9
35	Blood Coagulation Signaling Pathways37	8.8	THBD, PLAT, F2, F3, F5, SERPINE1
36	Cellular Apoptosis Pathway36	8.8	TGFBR3, TGFB1, TIMP1, BMP7, BMP6, BMP4
37	Complement and coagulation cascades20	8.8	THBD, PLAT, F2, F3, F5, FGA
38	Epithelial Adherens Junctions36	8.7	TGFBR3, TGFBR2, TGFB1, TIMP1, BMP7, BMP6
39	Glucocorticoid Receptor Signaling36	8.7	TGFB1, CCL3, CCL2, BMP7, BMP6, BMP4
40	TGF-Beta Pathway36	8.6	TGFBR2, TGFB1, TIMP1, CCL3, CCL2, BMP7
41	Cytokine-cytokine receptor interaction20	8.6	TGFBR2, TGFB1, ACVR1, ACVR2A, PF4, CCL3
42	Tec Kinases Signaling36	8.5	CCL3, ACVR1, ACVRL1, TIMP1, TGFB1, CCL2
43	PAK Pathway36	8.5	TGFBR3, TGFB1, TIMP1, PF4, CCL3, CCL2
44	Rho Family GTPases36	8.4	TGFB1, TIMP1, PF4, CCL3, CCL2, FBN1
45	p38 Signaling36	8.4	PF4, ACVR1, ACVRL1, TIMP1, TGFB1, CCL3
46	JAK-STAT Pathway36	8.4	TGFB1, TIMP1, F2, CCL3, CCL2, BMP7
47	Chagas disease (American trypanosomiasis)20	8.4	TGFBR2, TGFB1, ACE, CCL3, CCL2, SERPINE1
48	MAPK Family Pathway36	8.4	TGFBR3, TGFBR2, TGFB1, TIMP1, CCL3, CCL2
49	Renin-Angiotensin Pathway36	8.2	TGFBR3, TGFB1, TIMP1, ACE, PTGIR, CCL2
50	Antioxidant Action of Vitamin-C36	8.2	PF4, ACVR1, ACVRL1, TIMP1, TGFB1, TGFBR3

Compounds related to primary pulmonary hypertension according to GeneDecks:

(show top 50)    (show all 284)

id	Compound	Score	Top Affiliating Genes
1	nitroglycerin32 9 9	12.3	PTGIS, ELANE
2	hirudin32	10.1	FGA, F5, PF4, TIMP1, THBD
3	isoproterenol32 9 9	11.9	ADM, NPPA, ELANE, PDE4A
4	sodium nitroprusside32	9.3	PDE4A, VWF, BMP6, PDE5A, ELANE, HBG2
5	pge232	9.1	BMP4, BMP7, CCL3, ALOX5, ALOX5AP, PTGIS
6	ptca32	8.8	FGA, SELP, PLAT, F3, PF4, THBD
7	argatroban32 9 9	10.7	F5, SELP, F2, F3, FGA, THBD
8	iloprost32 42 9 9	11.6	PF4, PLAT, PTGIR, F3, SELP, PDE4A
9	perindopril32 34 9 9	11.6	SERPINE1, PLAT, ACE, THBD, TGFB1, NPPA
10	11-dehydrothromboxane b232	8.5	SELP, VWF, SERPINE1, FGA, F2, PF4
11	bivalirudin32 9 9	10.5	F3, SELP, FGA, THBD, F5, F2
12	indomethacin32 9 9	10.4	EDN1, TIMP1, TGFB1, NPPB, ADM, PDE5A
13	pge132	8.4	PDE4A, VWF, SERPINE1, FGA, F5, F2
14	thromboxane a232 18	9.4	PDE4A, VWF, SELP, FGA, ALOX5, PTGIS
15	txb232	8.3	THBD, PF4, PTGIS, ALOX5, F3, FGA
16	thromboxane32 18	9.3	PDE4A, VWF, SELP, FGA, ALOX5, ALOX5AP
17	heparin32 9 18 9	11.3	TIMP1, WNT2, ELANE, ALOX5, VWF, SERPINE1
18	quinapril32 9 9	10.1	EDN1, ACE, NPPA, PLAT, SERPINE1, VWF
19	dermatan sulfate32	8.0	VWF, SELP, BMP6, THBD, PF4, PLAT
20	aprotinin32 9 9	9.9	VWF, SELP, FGA, F5, F2, PLAT
21	desmopressin32 42 9 9	10.8	VWF, F2, SELP, SERPINE1, F5, NPPA
22	ppack32	7.7	CCL2, FGA, SELP, VWF, PLAT, F2
23	arginine32	7.6	PF4, PDE5A, EDN1, HBG2, TIMP1, THBD
24	epinephrine32 9 18 9	10.6	SELP, BMP6, FGA, F5, F3, F2
25	dipyridamole42 32 9 9	10.6	NPPB, TGFB1, PDE5A, PF4, F2, F3
26	tgf beta132	7.6	SMAD4, PF4, ACVRL1, TIMP1, TGFB1, TGFBR2
27	cysteine32	7.4	THBD, TIMP1, TGFBR2, HBG2, ELANE, PF4
28	atorvastatin32 34 9 18 9	11.4	APOC3, CCL2, F5, PLAT, EDN1, TIMP1
29	warfarin32 34 9 18 9	11.4	PLAT, PF4, ACE, ACVR1, THBD, F2
30	vitamin d32	7.1	FBN1, BMP6, BMP2, SERPINE1, BMP7, THBD
31	actinomycin d32	7.1	THBD, TGFB1, TGFBR2, NPPB, ADM, SERPINE1
32	losartan32 34 9 9	9.8	NPPA, TGFB1, THBD, ACE, EDN1, PLAT
33	homocysteine32 18	7.8	F3, F2, PLAT, THBD, NPPB, ADM
34	cycloheximide32	6.8	CCL2, BMP4, BMP6, BMP7, EDN1, CCL3
35	norepinephrine32 9 18 9	9.8	ELANE, TIMP1, NPPA, NPPB, SLC6A4, ADM
36	simvastatin32 34 42 9 18 9	11.8	BMP2, BMP6, CCL2, CCL3, F5, F3
37	kininogen32	6.7	NPPA, THBD, ELANE, ACE, PF4, PLAT
38	histamine32 18	7.6	PDE4A, VWF, SELP, BMP6, FGA, ADM
39	lactate32	6.6	SELP, BMP2, BMP6, CCL3, F2, SMAD4
40	cyclosporin a32 42	7.2	TIMP1, THBD, TGFB1, TGFBR2, NPPA, NPPB
41	dexamethasone32 42 34 9 9	9.9	CCL2, ALOX5, NPPB, ADM, ALOX5AP, TIMP1
42	aspirin32 34 18	7.3	TIMP1, ELANE, ACE, PF4, PLAT, THBD
43	cholesterol32 9 18 9	8.2	THBD, TIMP1, ACE, ADM, TGFBR2, PF4
44	creatinine32	5.2	ADM, F5, F3, F2, PLAT, PF4
45	nitric oxide32 9 18 9	8.2	VWF, TIMP1, THBD, TGFBR2, NPPA, NPPB
46	prostacyclin32	5.0	PLAT, PF4, PDE5A, EDN1, ACE, ELANE
47	retinoic acid32 42 18	7.0	PDE4A, VWF, SELP, SERPINE1, BMP2, BMP4
48	estrogen32	5.0	PDE5A, ELANE, TIMP1, THBD, TGFB1, TGFBR2
49	vegf32	5.0	PDE4A, VWF, SELP, TGFB1, CCL2, BMP6
50	serine32	4.0	VWF, SERPINE1, BMP2, BMP4, BMP6, BMP7

Cellular components related to primary pulmonary hypertension according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:031012	8.9	WNT2, PLAT, F3, FBN1, SERPINE1, VWF
2	proteinaceous extracellular matrix	GO:005578	8.8	WNT2, TGFBR3, TGFB1, FBN1, BMP4, VWF
3	cell surface	GO:009986	8.7	TGFBR3, TGFB1, THBD, ELANE, ACVRL1, ACVR2A
4	platelet alpha granule lumen	GO:031093	8.7	TGFB1, TIMP1, PF4, F5, FGA, SERPINE1
5	integral to plasma membrane	GO:005887	8.3	SLC6A4, TGFBR3, THBD, ACVRL1, ACVR1, ACVR2A
6	external side of plasma membrane	GO:009897	8.0	TGFBR3, TGFBR2, ACE, CTLA4, ICOS, FGA
7	extracellular region	GO:005576	5.8	ELANE, EDN1, PF4, PLAT, TIMP1, TGFB1
8	cytoplasm	GO:005737	5.7	TRIM21, SUMO1, SMAD1, SMAD4, PLAT, EDN1
9	extracellular space	GO:005615	4.9	SELP, PTGIS, PLAT, PF4, EDN1, ACE

Biological processes related to primary pulmonary hypertension according to GeneDecks:

(show top 50)    (show all 60)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of endothelial cell differentiation	GO:045603	10.5	ACVRL1, BMP6, BMP4
2	positive regulation of cartilage development	GO:061036	10.4	SMAD1, BMP4, BMP2
3	positive regulation of BMP signaling pathway	GO:030513	10.4	ACVRL1, SMAD4, BMPR2, BMP4
4	embryonic skeletal system morphogenesis	GO:048704	10.4	SATB2, HOXA5, HOXB2, HOXB6
5	heart development	GO:007507	10.3	ADM, NPPB, TGFBR2, EDN1, FBN1, BMP2
6	positive regulation of odontogenesis	GO:042482	10.3	BMP2, EDN1, TGFB1
7	negative regulation of blood coagulation	GO:030195	10.2	SERPINE1, EDN1, THBD
8	SMAD protein signal transduction	GO:060395	10.2	SMAD4, BMP7, BMP6, BMP4, BMP2
9	cartilage development	GO:051216	10.1	TGFBR2, EDN1, SATB2, BMP7, BMP6, BMP2
10	negative regulation of fibrinolysis	GO:051918	10.1	THBD, F2, SERPINE1
11	blood circulation	GO:008015	10.1	ADM, ACVRL1, HOXB2, F5
12	SMAD protein complex assembly	GO:007183	10.0	TGFB1, SMAD4, SMAD1
13	osteoblast differentiation	GO:001649	10.0	CCL3, BMP6, BMP4, BMP2
14	positive regulation of SMAD protein import into nucleus	GO:060391	10.0	TGFB1, SMAD4, BMP4
15	negative regulation of cell growth	GO:030308	9.9	NPPB, NPPA, TGFB1, ACVRL1, SMAD4, BMPR2
16	in utero embryonic development	GO:001701	9.9	TGFBR2, ACVRL1, ACVR1, EDN1, SMAD4, BMP2
17	epithelial to mesenchymal transition	GO:001837	9.9	TGFBR3, TGFB1, BMP7, BMP2
18	palate development	GO:060021	9.9	TGFBR3, TGFBR2, SMAD4, SUMO1, SATB2
19	response to cholesterol	GO:070723	9.9	TGFBR2, TGFB1, CCL3
20	positive regulation of osteoblast differentiation	GO:045669	9.9	ACVR1, ACVR2A, SMAD1, BMPR2, BMPR1B, BMP7
21	positive regulation of apoptotic process	GO:043065	9.8	PDE5A, CTLA4, PTGIS, HOXA5, BMP4, BMP2
22	cellular response to interleukin-1	GO:071347	9.8	EDN1, PTGIS, CCL3, CCL2
23	ureteric bud development	GO:001657	9.8	TGFB1, SMAD9, SMAD1, BMP7, BMP4
24	negative regulation of cell cycle	GO:045786	9.8	TGFB1, BMP7, BMP4, BMP2
25	positive regulation of gene expression	GO:010628	9.8	SLC6A4, TGFB1, PF4, SMAD1, CCL3, BMP2
26	positive regulation of protein phosphorylation	GO:001934	9.7	TGFB1, ACVR2A, F2, BMP4, BMP2
27	positive regulation of MAP kinase activity	GO:043406	9.6	TGFB1, ELANE, EDN1, PDE5A
28	pathway-restricted SMAD protein phosphorylation	GO:060389	9.6	TGFBR3, TGFBR2, TGFB1, ACVR1, BMP7, BMP2
29	positive regulation of bone mineralization	GO:030501	9.6	BMP2, BMP4, BMP6, BMP7, BMPR1B, BMPR2
30	response to mechanical stimulus	GO:009612	9.5	BMP2, BMP4, CCL2, F3
31	positive regulation of endothelial cell proliferation	GO:001938	9.4	WNT2, ACVRL1, F3, CCL2, BMPR2, BMP6
32	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	9.3	SMAD4, ACVR2A, ACVR1, ACVRL1, TGFB1, BMPR2
33	positive regulation of cell migration	GO:030335	9.3	TGFB1, EDN1, F3, CCL3, BMP2
34	BMP signaling pathway	GO:030509	9.3	BMP2, BMP4, BMP6, BMP7, BMPR1B, BMPR2
35	cellular response to organic cyclic compound	GO:071407	9.3	TGFB1, SMAD9, SMAD1, CCL3, CCL2, BMP2
36	negative regulation of angiogenesis	GO:016525	9.3	NPPB, PF4, HOXA5, CCL2
37	positive regulation of transcription, DNA-dependent	GO:045893	9.2	TGFB1, ACVRL1, ACVR1, SMAD9, SMAD4, AIRE
38	response to wounding	GO:009611	9.2	VWF, F2, TGFB1, ADM
39	organ regeneration	GO:031100	9.0	ADM, TGFBR3, TGFB1, CCL2
40	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.9	TGFB1, ACVRL1, ACVR1, SMAD4, SMAD1, AIRE
41	aging	GO:007568	8.9	ADM, TGFB1, TIMP1, F3, CCL2
42	response to drug	GO:042493	8.9	SLC6A4, NPPB, TGFBR2, TGFB1, EDN1, SMAD1
43	response to lipopolysaccharide	GO:032496	8.8	ADM, THBD, ELANE, EDN1, PDE5A, PTGIR
44	protein phosphorylation	GO:006468	8.8	TGFBR2, TGFB1, ACVRL1, ACVR1, SMAD9, SMAD1
45	response to hypoxia	GO:001666	8.6	ADM, SLC6A4, NPPB, TGFBR3, TGFB1, EDN1
46	transforming growth factor beta receptor signaling pathway	GO:007179	8.4	TGFBR3, TGFBR2, TGFB1, ACVRL1, ACVR1, SMAD9
47	inflammatory response	GO:006954	8.4	NPPB, TGFB1, SMAD1, CCL3, CCL2, BMPR1B
48	platelet degranulation	GO:002576	8.1	TGFB1, TIMP1, PF4, F5, FGA, SERPINE1
49	platelet activation	GO:030168	7.8	TGFB1, TIMP1, PF4, F2, F5, FGA
50	blood coagulation	GO:007596	6.8	PF4, PDE5A, HBG2, TIMP1, THBD, TGFB1

Molecular functions related to primary pulmonary hypertension according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor activity, type I	GO:005025	10.3	ACVRL1, ACVR1, BMPR1B
2	BMP receptor binding	GO:070700	10.2	BMP2, BMP4, BMP6
3	transmembrane receptor protein serine/threonine kinase activity	GO:004675	10.1	TGFBR2, ACVRL1, ACVR1, ACVR2A, BMPR1B
4	activin binding	GO:048185	10.1	TGFBR3, ACVRL1, ACVR1, ACVR2A
5	receptor signaling protein serine/threonine kinase activity	GO:004702	10.1	BMPR1B, ACVR2A, ACVR1, ACVRL1, TGFBR2
6	transforming growth factor beta binding	GO:050431	10.0	TGFBR3, TGFBR2, ACVRL1, ACVR1
7	transforming growth factor beta-activated receptor activity	GO:005024	10.0	TGFBR3, TGFBR2, ACVRL1, ACVR2A, BMPR2
8	SMAD binding	GO:046332	9.9	TGFBR3, TGFBR2, ACVRL1, ACVR1, BMPR1B, BMP2
9	cytokine activity	GO:005125	9.7	WNT2, EDN1, BMP7, BMP6, BMP4, BMP2
10	receptor binding	GO:005102	8.9	ADM, NPPB, NPPA, TRAK2, F2, CCL2
11	growth factor activity	GO:008083	8.9	TGFB1, F2, BMP7, BMP6, BMP4, BMP2
12	protease binding	GO:002020	8.9	VWF, SERPINE1, F3, ELANE
13	heparin binding	GO:008201	8.0	TGFBR3, ELANE, PF4, CCL2, BMP4, SELP
14	protein binding	GO:005515	2.4	ADM, ACE, PLAT, SMAD4, SMAD1, CTLA4