Arteriovenous Malformation malady

MedlinePlus: Arteriovenous malformations (avms) are defects in your circulatory system. the circulatory system includes the arteries, veins and capillaries that carry blood to and from the heart. an avm is a snarled tangle of arteries and veins. it interferes with the blood circulation in an organ. avms can happen anywhere, but the ones located in the brain or spinal cord can have effects such as seizures or headaches. however, most people with brain and spinal cord avms experience few, if any, significant symptoms. the cause of avms is unknown, though they seem to develop during pregnancy or soon after birth. the greatest danger of an avm is hemorrhage. prevention can include surgery or focused irradiation therapy. nih: national institute of neurological disorders and stroke²³

MalaCards: Arteriovenous Malformation, also known as arteriovenous malformations, is related to pulmonary arteriovenous malformation and intracranial arteriovenous malformation. An important gene associated with Arteriovenous Malformation is RASA1 (RAS p21 protein activator (GTPase activating protein) 1), and among its related pathways are Development VEGF-family signaling and Actin-Based Motility by Rho Family GTPases. The compounds egcg and sp 600125 have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Wikipedia: Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually...⁴⁴ more...

Aliases & Descriptions:

arteriovenous malformation 6 16 31 8 43 arteriovenous malformations 17 32 23 racemose hemangioma (morphologic abnormality) 6 racemose aneurysm (morphologic abnormality) 6 cerebral arteriovenous malformations 16 arteriovenous malformations cerebral 32

arteriovenous hemangioma (disorder) 6 cirsoid aneurysm (disorder) 6 cirsoid aneurysm 6 racemose angioma 6 avm 16

Diseases related to arteriovenous malformation by text searches and GeneDecks gene sharing:

(show top 50)    (show all 693)

id	Related Disease	Score	Top Affiliating Genes
1	pulmonary arteriovenous malformation	34.4	ENG, ALB, HMOX1, HIF1A
2	intracranial arteriovenous malformation	33.8	VEGFB, FLT4
3	hereditary hemorrhagic telangiectasia	32.6	ENG, ACVRL1, TGFBR1
4	cavernous malformation	28.9	VEGFA, KDR, ITGAV, ENG, PTEN, TIE1
5	eosinophilia	27.1	PIK3C2A, REN, IL17A, IL1B, IL5, IL6
6	cerebral aneurysms	26.0	REN, MMP9, IL6, APOE, HMOX1, TNF
7	cerebritis	23.7	PIK3C2A, REN, VEGFA, KDR, ITGAV, MMP3
8	thrombosis	21.9	PIK3C2A, REN, VEGFA, MMP3, MMP9, FLT1
9	hypertension	19.9	PIK3C2A, REN, VEGFA, VEGFB, KDR, ITGAV
10	neuronitis	18.9	PIK3C2A, NCOA1, REN, VEGFA, VEGFB, RASA1
11	hypoxia	18.7	PIK3C2A, NCOA1, REN, VEGFA, VEGFB, KDR
12	hepatitis	17.3	PIK3C2A, REN, VEGFA, KDR, ITGAV, ITGB8
13	tufted angioma	13.9	FLT4, ENG, TEK
14	vascular disease	13.8	FLT4, TEK, ACVRL1, SLC2A1
15	telangiectasis	13.8	ENG, SMAD4, ACVRL1, TGFBR1
16	hereditary hemorrhagic telangiectasia type 2	13.8	ENG, ACVRL1
17	hemangioma, capillary infantile, somatic	13.7	KDR, FLT4
18	klippel-trenaunay syndrome	13.7	RASA1, FLT4, TEK, NOTCH4, ACVRL1
19	thoracic cancer	13.7	KDR, CASP9, SLC2A1
20	pericardial effusion	13.6	PIK3C2A, ALB, HIF1A
21	uterine sarcoma	13.6	KDR, FLT1, PTEN, SLC2A1
22	marfan-like connective tissue disorder	13.6	TGFBR1, TGFBR2
23	lymphangioma	13.5	KDR, FLT4, F8, PECAM1
24	papillary thyroid carcinoma	13.5	ENG, ANGPT2, TEK, PTEN, SLC2A1
25	eisenmenger syndrome	13.4	EDN1, TGFBR1, TGFBR2
26	eosinophilic gastroenteritis	13.4	IL5, ALB, RNASE3
27	angiodysplasia	13.4	VEGFA, ENG, ACVRL1
28	brain glioma	13.4	MMP9, HIF1A, PECAM1, NES
29	weber syndrome	13.4	VEGFA, RASA1, ENG, ACVRL1
30	venous malformations	13.4	REN, TEK, TIE1, EPHB4
31	active peptic ulcer disease	13.4	F2, ACVRL1
32	varicocele	13.3	ALB, CASP9, HMOX1, EDN1
33	pulmonary hypertension	13.3	FLT1, TEK, EDN1, ACVRL1, HIF1A, TGFBR2
34	cerebral cavernous malformations	13.3	KDR, PTEN, TIE1, PECAM1
35	gilbert syndrome	13.3	VEGFA, KDR, HMOX1, HIF1A
36	renal hypertension	13.3	REN, ALB, EDN1
37	refractive error	13.3	MMP12, MMP3, MMP9, TIMP4
38	corneal neovascularization	13.3	VEGFA, KDR, FLT1, TEK, TIMP4
39	angiofibroma	13.2	VEGFA, FLT4, TEK, HIF1A, TIE1
40	nasopharynx carcinoma	13.2	MMP3, CASP9, SMAD4, HIF1A, TGFBR2
41	fournier gangrene	13.2	F8, F2, ALB
42	lymphedema	13.2	VEGFA, VEGFB, KDR, FLT4, ANGPT2
43	cavernous hemangioma of face	13.2	F8, F2, TEK, PECAM1
44	ovarian carcinosarcoma	13.2	VEGFA, FLT4, F8
45	placental insufficiency	13.2	FLT1, IL6, ANGPT2, TEK
46	systemic scleroderma	13.1	MMP12, MMP3, IL17A, ENG, EDN1, TGFBR1
47	focal cortical dysplasia	13.1	VEGFA, VEGFB, FLT1, PTEN
48	ovarian clear cell adenocarcinoma	13.1	VEGFA, PTEN, SMAD4, HIF1A
49	microcystic meningioma	13.1	VEGFA, MMP9, FLT1
50	hypertensive nephropathy	13.1	VEGFA, ALB, EDN1

Approved drugs:

Drug clinical trials:

Genetic tests related to arteriovenous malformation:

id	Genetic test	Affiliating Genes
1	Arteriovenous Malformation clinical/research

MalaCards organs/tissues related to arteriovenous malformation:

²²

MGI Mouse Phenotypes related to arteriovenous malformation:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.3	APOE, ACVRL1, TIE1
2	endocrine/exocrine gland phenotype	MP:0005379	10.3	NCOA1
3	hematopoietic system phenotype	MP:0005397	9.9	ACVRL1, SMAD4, CASP9, ENG, IL5, IL17A
4	craniofacial phenotype	MP:0005382	9.5	ACVRL1, EDN1, CASP9, IL17A, ITGB8, RASA1
5	liver/biliary system phenotype	MP:0005370	9.4	HIF1A, ACVRL1, IL6, VEGFA
6	integument phenotype	MP:0010771	9.3	TIE1, ERBB2IP, F2, ANGPT2, FLT4, NCOA1
7	renal/urinary system phenotype	MP:0005367	9.2	TIE1, HIF1A, SMAD4, PTEN, APOE, MEP1A
8	embryogenesis phenotype	MP:0005380	8.6	ITGB8, ITGAV, RASA1, NCOA1, FLT4, EPHB4
9	skeleton phenotype	MP:0005390	7.7	PLAT, HIF1A, TGFBR1, TGFBR2, PECAM1, PTEN
10	normal phenotype	MP:0002873	7.3	PTEN, SMAD4, NOTCH4, ACVRL1, HIF1A, TGFBR1
11	reproductive system phenotype	MP:0005389	7.1	IL6, F8, TNF, SMAD4, OCLN, MEP1A
12	behavior/neurological phenotype	MP:0005386	7.0	ERBB2IP, TRIM2, PTEN, SMAD4, PLAT, TGFBR2
13	tumorigenesis	MP:0002006	6.9	TGFBR2, TGFBR1, HIF1A, SMAD4, PTEN, TNF
14	nervous system phenotype	MP:0003631	6.8	NES, SLC2A1, OCLN, TGFBR1, TIE1, HIF1A
15	growth/size phenotype	MP:0005378	6.5	EPHB4, SLC2A1, OCLN, TGFBR2, TGFBR1, TIE1
16	vision/eye phenotype	MP:0005391	6.5	TRIM2, TNF, PTEN, PLAT, EGFLAM, HIF1A
17	immune system phenotype	MP:0005387	6.0	FLT1, MMP3, MMP12, ITGAV, KDR, REN
18	muscle phenotype	MP:0005369	5.4	EPHB4, EFNA1, PECAM1, OCLN, TGFBR2, TGFBR1
19	cellular phenotype	MP:0005384	5.2	ABCC5, PLAT, SMAD4, PTEN, TEK, HIF1A
20	digestive/alimentary phenotype	MP:0005381	4.8	PECAM1, IL6, IL5, IL17A, MEP1A, FLT4
21	homeostasis/metabolism phenotype	MP:0005376	4.3	PECAM1, SLC2A1, OCLN, TGFBR2, TGFBR1, TIMP4
22	mortality/aging	MP:0010768	4.2	SMAD4, KDR, RASA1, VEGFB, VEGFA, REN
23	cardiovascular system phenotype	MP:0005385	3.3	TGFBR2, TGFBR1, TIMP4, TIE1, HIF1A, ACVRL1

Articles related to arteriovenous malformation:

(show top 50)    (show all 54)

id	Title	Authors	Year	Affiliating Genes
1	Polymorphisms of the vascular endothelial growth fact or A gene and susceptibility to sporadic brain arteriovenous malformation in a Chinese population. (21316969)	Chen H.... Zhao Y.	2011	VEGFA
2	Neuroglobin expression in human arteriovenous malform ation and intracerebral hemorrhage. (21725774)	Jin K.... Greenberg D.A.	2011	NGB
3	Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations. (21212665)	Mikhak B.... Kim H.	2011	ANGPTL4
4	Reduced expression of integrin alphavbeta8 is associa ted with brain arteriovenous malformation pathogenesis. (20019187)	Su H.... Nishimura S.L.	2010	ITGAV, ITGB8
5	Pathogenesis of arteriovenous malformations in the ab sence of endoglin. (20224041)	Mahmoud M.... Arthur H.M.	2010	ENG
6	Stroke after prolonged air travel associated with a p ulmonary arteriovenous malformation. (20236665)	PareAcs I.... Alvarez-SabA-n J.	2010	ACVRL1, ENG
7	Brain arteriovenous malformation biology relevant to hemorrhage and implication for therapeutic development. (19064791)	Kim H.... Young W.L.	2009	ACVRL1
8	EPHB4 gene polymorphisms and risk of intracranial hem orrhage in patients with brain arteriovenous malformations. (20031623)	Weinsheimer S.... Young W.L.	2009	EPHB4
9	Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation. (19092239)	Kim H.... Young W.L.	2009	IL1B
10	Population stratification in a case-control study of brain arteriovenous malformation in Latinos. (18841030)	Kim H.... Young W.L.	2008	IL6
11	RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. (18363760)	Hershkovitz D.... Lapidot M.	2008	RASA1
12	Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)	Mache C.J.... Haworth S.G.	2008	ENG
13	Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice. (18667694)	Murphy P.A.... Wang R.A.	2008	NOTCH4
14	Plasma levels of vascular endothelial growth factor after treatment for cerebral arteriovenous malformations. (18535271)	Kim G.H.... Connolly E.S.	2008	VEGFA
15	Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis. (17576607)	Sasahara A.... Inoue I.	2007	EFNA1, EMILIN2
16	Association of tumor necrosis factor-alpha-238G>A and apolipoprotein E2 polymorphisms with intracranial hemorrhage after brain arteriovenous malformation treatment. (17986934)	Achrol A.S.... Young W.L.	2007	TNF, APOE
17	Neuronal expression of Fas-associated death domain protein and caspase-8 in the perinidal parenchyma of cerebral arteriovenous malformations. (17410712)	Takagi Y.... Hashimoto N.	2007	CASP9
18	Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. (17392703)	Caux F.... Longy M.	2007	PTEN
19	Fatal spontaneous thrombosis of a cerebral arteriovenous malformation in a young patient with a rare heterozygous prothrombin gene mutation. Case report. (17330543)	Taha M.... Makris M.	2007	F2
20	Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. (16639317)	Pawlikowska L.... Young W.L.	2006	APOE
21	Interleukin-6 involvement in brain arteriovenous malformations. (16278864)	Chen Y.... Young W.L.	2006	MMP3, MMP9, IL6
22	Endothelial cells from human cerebral aneurysm and arteriovenous malformation release ET-1 in response to vessel rupture. (17016610)	Boscolo E.... Folin M.	2006	EDN1
23	Vascular endothelial growth factor plasma levels are significantly elevated in patients with cerebral arteriovenous malformations. (16388189)	Sandalcioglu I.E.... Stolke D.	2006	VEGFA
24	Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. (16776339)	Simon M.... Schramm J.	2006	ACVRL1, ENG
25	Expression of TGFbeta1 and its type I receptors ALK1 and ALK5 mRNA in brain arteriovenous malformation (16762882)	Chen G.Z.... Jiang X.D.	2006	TGFBR1, ACVRL1
26	MMP-9 expression is associated with leukocytic but not endothelial markers in brain arteriovenous malformations. (16720380)	Chen Y.... Young W.L.	2006	MMP9
27	Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. (16179574)	Pawlikowska L.... Young W.L.	2005	ACVRL1, ENG
28	Hypoxia inducible factor-1alpha and expression of vascular endothelial growth factor and its receptors in cerebral arteriovenous malformations. (16165361)	Ng I.... Lim J.	2005	FLT4, FLT1, KDR
29	Coexpression of angiogenic factors in brain arteriovenous malformations. (15854255)	Hashimoto T.... Young W.L.	2005	MMP9, ANGPT2
30	RASA1: variable phenotype with capillary and arteriovenous malformations. (15917201)	Boon L.M.... Vikkula M.	2005	RASA1
31	Characterization of the integrin alpha v beta3 in arteriovenous malformations and cavernous malformations. (15925879)	Lim M.... Guccione S.	2005	ITGAV
32	Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. (15331795)	Pawlikowska L.... Young W.L.	2004	TNF, IL6
33	Reinduced expression of developmental proteins (nestin, small heat shock protein) in and around cerebral arteriovenous malformations. (14531551)	Ha Y.... Lee K.C.	2003	NES
34	Abnormal expression of matrix metalloproteinases and tissue inhibitors of metalloproteinases in brain arteriovenous malformations. (12649522)	Hashimoto T.... Young W.L.	2003	TIMP4
35	Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (14639529)	Eerola I.... Vikkula M.	2003	RASA1
36	Immunohistochemical analysis of a cerebral arteriovenous malformation obliterated by radiosurgery and presenting with re-bleeding. Case report. (14579789)	Szeifert G.T.... Levivier M.	2003	F8
37	The role of oxidative stress in the development of pulmonary arteriovenous malformations after cavopulmonary anastomosis. (12202863)	Malhotra S.P.... Riemer R.K.	2002	HMOX1, HIF1A
38	Expression of vascular endothelial growth factors and their receptors in and around intracranial arteriovenous malformations. (11844242)	Koizumi T.... Kawano T.	2002	FLT4, VEGFB
39	Immunohistochemical study of vascular endothelial growth factor, relative receptors and ligands in vascular endothelial cells of cerebral arteriovenous malformation (11769600)	Li J.... Zhao M.	2001	TEK, TIE1
40	Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation. (11802521)	Lin W.D.... Tsai C.H.	2001	ACVRL1
41	Abnormal pattern of Tie-2 and vascular endothelial growth factor receptor expression in human cerebral arteriovenous malformations. (11014431)	Hashimoto T.... Young W.L.	2000	TEK
42	Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. (10702408)	Bourdeau A.... Letarte M.	2000	ENG
43	Analysis of endoglin expression in normal brain tissue and in cerebral arteriovenous malformations. (11062290)	Matsubara S.... Letarte M.	2000	ENG
44	Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (10749983)	Zhou X.P.... Eng C.	2000	PTEN
45	Angiolymphoid hyperplasia with eosinophilia associated with arteriovenous malformation: a clinicopathological correlation with angiography and serial estimation of serum levels of renin, eosinophil cationic protein and interleukin 5. (10354088)	Onishi Y.... Ohara K.	1999	REN, IL5, RNASE3
46	Fibrinolytic treatment of intraventricular haemorrhage preceding surgical repair of ruptured aneurysms and arteriovenous malformations. (10616579)	Mayfrank L.... Gilsbach J.M.	1999	PLAT
47	Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? (8728706)	Berg J.N.... Porteous M.E.	1996	ENG
48	Tie endothelial cell-specific receptor tyrosine kinase is upregulated in the vasculature of arteriovenous malformations. (8939195)	Hatva E.... Haltia M.	1996	TIE1
49	Quantification of right to left shunt at rest and during exercise in patients with pulmonary arteriovenous malformations. (1481178)	Whyte M.K.... Chilvers E.R.	1992	ALB
50	Cerebral vasospasm with elevated creatine phosphokinase following surgery of unruptured arteriovenous malformation. (1603219)	Takabatake Y.... Yamamoto Y.	1992	PIK3C2A

Genes related to arteriovenous malformation according to GeneCards:

(show top 50)    (show all 56)

id	Symbol	Description	Score	GeneCards Section Context
1	RASA1	RAS p21 protein activator (GTPase activating protein) 1	11.1	Summaries, Publications
2	ENG	endoglin	11.0	Publications
3	ACVRL1	activin A receptor type II-like 1	11.0	Publications
4	VEGFB	vascular endothelial growth factor B	11.0	Publications
5	FLT4	fms-related tyrosine kinase 4	11.0	Publications
6	ABCC5	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	11.0
7	TEK	TEK tyrosine kinase, endothelial	11.0	Publications
8	PECAM1	platelet/endothelial cell adhesion molecule 1	11.0
9	TGFBR1	transforming growth factor, beta receptor 1	11.0	Publications
10	FLT1	fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)	11.0	Publications
11	HIF1A	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	11.0	Publications
12	HMOX1	heme oxygenase (decycling) 1	11.0	Publications
13	KDR	kinase insert domain receptor (a type III receptor tyrosine kinase)	11.0	Publications
14	SLC2A1	solute carrier family 2 (facilitated glucose transporter), member 1	11.0
15	SMAD4	SMAD family member 4	11.0
16	ALB	albumin	11.0	Publications
17	TIMP4	TIMP metallopeptidase inhibitor 4	11.0	Publications
18	NGB	neuroglobin	11.0	Publications
19	ANGPTL4	angiopoietin-like 4	11.0	Publications
20	EFNA1	ephrin-A1	11.0	Publications
21	TIE1	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	11.0	Publications
22	EPHB4	EPH receptor B4	11.0	Publications
23	EMILIN2	elastin microfibril interfacer 2	11.0	Disorders, Publications
24	ANGPT2	angiopoietin 2	11.0	Publications
25	MMP12	matrix metallopeptidase 12 (macrophage elastase)	11.0	Publications
26	OCLN	occludin	11.0
27	NOTCH4	notch 4	11.0	Publications
28	MEP1A	meprin A, alpha (PABA peptide hydrolase)	11.0
29	LTBP2	latent transforming growth factor beta binding protein 2	11.0	Publications
30	NES	nestin	11.0	Publications
31	ITGB8	integrin, beta 8	11.0	Publications
32	PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	11.0	Publications
33	RNASE3	ribonuclease, RNase A family, 3	11.0	Publications
34	UNC45A	unc-45 homolog A (C. elegans)	11.0
35	IL17A	interleukin 17A	11.0	Publications
36	ITGAV	integrin, alpha V	11.0	Publications
37	CASP9	caspase 9, apoptosis-related cysteine peptidase	11.0	Publications
38	NCOA1	nuclear receptor coactivator 1	11.0
39	EGFLAM	EGF-like, fibronectin type III and laminin G domains	11.0
40	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.0	Publications
41	TRIM2	tripartite motif containing 2	11.0
42	ERBB2IP	erbb2 interacting protein	11.0
43	PTEN	phosphatase and tensin homolog	11.0	Publications
44	MMP3	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	11.0	Publications
45	MMP9	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	11.0	Publications
46	APOE	apolipoprotein E	11.0	Publications
47	IL5	interleukin 5 (colony-stimulating factor, eosinophil)	11.0	Publications
48	EDN1	endothelin 1	11.0	Publications
49	F8	coagulation factor VIII, procoagulant component	11.0	Publications
50	PLAT	plasminogen activator, tissue	11.0	Publications

Pathways related to arteriovenous malformation according to GeneDecks:

(show top 50)    (show all 104)

id	Pathway	Score	Top Affiliating Genes
1	Development VEGF-family signaling10	10.3	FLT4, FLT1, ITGAV, KDR, VEGFB
2	Actin-Based Motility by Rho Family GTPases36	10.2	TGFBR1, TIMP4, LTBP2, ITGAV, ITGB8
3	Breast Cancer Regulation by Stathmin136	10.1	VEGFB, TEK, LTBP2, TIMP4, TGFBR1
4	Telomerase Components in Cell Signaling36	10.1	FLT4, FLT1, KDR, VEGFB, TIMP4, LTBP2
5	eNOS Signaling36	10.1	FLT4, TIMP4, TEK, EPHB4, LTBP2
6	Development_VEGF-family signaling41	9.8	VEGFA, VEGFB, KDR, ITGAV, FLT1, FLT4
7	PTEN Pathway36	9.8	ITGB8, TGFBR1, LTBP2, TIMP4, PTEN, FLT4
8	Paxillin Interactions36	9.8	EPHB4, ITGB8, KDR, TIMP4, ITGAV, FLT1
9	ILK Signaling36	9.7	KDR, ITGB8, FLT4, TEK, LTBP2, HIF1A
10	VEGF Signaling Pathway34	9.7	FLT1, ITGAV, KDR, VEGFB, VEGFA, PIK3C2A
11	Focal adhesion20	9.6	ITGB8, ITGAV, KDR, PTEN, FLT1, VEGFB
12	Nanog in Mammalian ESC Pluripotency36	9.5	IL6, FLT4, FLT1, KDR, VEGFB, TEK
13	Mitochondrial Apoptosis36	9.5	KDR, VEGFB, TIMP4, LTBP2, CASP9, TGFBR1
14	JNK Pathway36	9.5	TIMP4, LTBP2, TEK, IL6, ANGPT2, VEGFB
15	Nuclear Receptor Activation by Vitamin-A36	9.4	IL6, NCOA1, VEGFB, TGFBR1, TIMP4, LTBP2
16	Rac1 Pathway36	9.4	LTBP2, IL6, FLT4, FLT1, TIMP4, ITGB8
17	14-3-3 Induced Intracellular Signaling36	9.4	FLT4, LTBP2, TNF, TEK, EPHB4, TIMP4
18	p53 Mediated Apoptosis36	9.3	FLT4, PTEN, KDR, VEGFB, IL6, FLT1
19	Estrogen Pathway36	9.3	VEGFB, FLT4, KDR, IL6, LTBP2, EPHB4
20	Ras Pathway36	9.3	EPHB4, TIMP4, LTBP2, TEK, IL6, FLT4
21	NFAT in Immune Response36	9.2	FLT4, VEGFB, IL6, KDR, TEK, LTBP2
22	Rho Family GTPases36	9.2	ITGAV, KDR, ITGB8, FLT1, FLT4, IL1B
23	Th17 Differentiation37	9.1	IL17A, IL1B, IL6, SMAD4, TGFBR1, TGFBR2
24	Renin-Angiotensin Pathway36	9.1	LTBP2, IL6, VEGFB, TGFBR1, REN, KDR
25	Angiogenesis3	9.1	REN, VEGFB, ITGAV, HIF1A, TGFBR1, PECAM1
26	ERK5 Signaling36	9.0	FLT4, TIMP4, LTBP2, IL6, FLT1, KDR
27	DHA Signaling36	9.0	VEGFB, KDR, FLT4, IL1B, IL6, FLT1
28	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.0	IL17A, IL1B, IL6, TGFBR1, TGFBR2
29	p70S6K Signaling36	9.0	VEGFB, TGFBR1, LTBP2, F2, IL6, TIMP4
30	Endothelin-1 Signaling Pathway36	8.9	EDN1, IL5, IL6, TEK, FLT4, EPHB4
31	Pathways in cancer20	8.9	VEGFB, VEGFA, SLC2A1, ITGAV, MMP9, CASP9
32	Apoptotic Pathways in Synovial Fibroblasts36	8.9	FLT1, KDR, VEGFB, TGFBR1, TIMP4, LTBP2
33	Pancreatic Adenocarcinoma36	8.8	IL6, FLT4, TEK, LTBP2, TIMP4, EPHB4
34	Akt Signaling36	8.7	TIMP4, ACVRL1, LTBP2, TEK, TNF, CASP9
35	Cellular Apoptosis Pathway36	8.7	TGFBR1, KDR, FLT1, FLT4, IL6, CASP9
36	TGF-Beta Pathway36	8.6	KDR, FLT1, FLT4, IL1B, IL5, TGFBR1
37	ERK Signaling36	8.6	ITGAV, LTBP2, EPHB4, TEK, IL5, IL1B
38	PPAR Pathway36	8.5	FLT4, TGFBR1, TIMP4, LTBP2, TNF, IL6
39	Molecular Mechanisms of Cancer36	8.4	TGFBR2, ITGB8, RASA1, KDR, TGFBR1, TIMP4
40	NF-KappaB (p50-p65) Pathway36	8.4	IL1B, FLT4, FLT1, KDR, VEGFB, TNF
41	NF-KappaB Family Pathway36	8.4	TIMP4, LTBP2, TNF, IL6, IL1B, FLT4
42	JAK-STAT Pathway36	8.1	EPHB4, TIMP4, LTBP2, TEK, IL1B, F2
43	Rheumatoid arthritis20	7.9	IL1B, FLT1, MMP3, VEGFB, VEGFA, TNF
44	MAPK Signaling36	7.9	TEK, TNF, LTBP2, TIMP4, IL6, EPHB4
45	PAK Pathway36	7.8	CASP9, ANGPT2, IL6, IL5, IL1B, FLT4
46	Tec Kinases Signaling36	7.8	TIMP4, ACVRL1, LTBP2, VEGFB, ITGAV, IL6
47	Antioxidant Action of Vitamin-C36	7.8	TEK, LTBP2, TIMP4, TGFBR1, SLC2A1, TNF
48	MAPK Family Pathway36	7.8	TGFBR1, TGFBR2, LTBP2, TNF, ANGPT2, IL6
49	p38 Signaling36	7.8	FLT1, IL5, IL1B, KDR, FLT4, IL6
50	Cytokine-cytokine receptor interaction20	7.5	KDR, FLT4, VEGFB, VEGFA, IL17A, IL1B

Compounds related to arteriovenous malformation according to GeneDecks:

(show top 50)    (show all 201)

id	Compound	Score	Top Affiliating Genes
1	egcg32	10.5	CASP9
2	sp 60012532 42	11.3	IL17A
3	ivig32	10.3	F8, PIK3C2A
4	glucose32	10.2	NES, TIE1, NGB, SLC2A1, SMAD4, ANGPT2
5	rapamycin32 42	10.6	FLT1, KDR, FLT4, CASP9, TGFBR1, PECAM1
6	hyaluronic acid32 18	10.5	RNASE3, PTEN, F2, ENG, MMP3
7	mg 13232 42	10.4	KDR, SMAD4, IL1B, HMOX1, CASP9, PTEN
8	oxygen32 18	10.3	VEGFB, MMP12, PECAM1, HIF1A, NGB, PTEN
9	histamine32 18	10.3	ALB, IL5, PLAT, RNASE3, EDN1, HIF1A
10	p00232	9.2	RNASE3, MMP3, MMP9, FLT1, PECAM1, IL17A
11	pge232	9.2	REN, MMP3, IL17A, IL5, ANGPT2, HMOX1
12	ns 39832 42	10.0	HMOX1, TNF, CASP9, IL17A, IL1B
13	fibrinogen32	9.0	ANGPT2, PIK3C2A, ITGAV, MMP12, IL6, ANGPTL4
14	heparin32 9 18 9	11.7	ALB, VEGFB, F2, APOE, FLT1, MMP3
15	ribonucleic acid32	8.7	IL1B, ANGPT2, TEK, TGFBR1, MMP3, SLC2A1
16	creatinine32	8.7	EDN1, MMP3, REN, MMP9, RNASE3, FLT1
17	matrigel32	8.6	ENG, ANGPT2, TEK, PLAT, HIF1A, TGFBR1
18	cysteine32	8.5	KDR, MMP9, HIF1A, PLAT, PTEN, TEK
19	celecoxib32 42 34 9 18 9	13.4	CASP9, REN, HIF1A, VEGFA, ANGPT2, KDR
20	taurine chloramine32	8.0	IL1B, IL6, CASP9, HMOX1, TNF
21	estrogen32	8.0	RNASE3, HMOX1, F2, F8, ANGPT2, ENG
22	infliximab32 9 9	9.8	IL6, TNF, TEK, IL17A, ANGPT2, VEGFA
23	ly29400232	7.8	IL17A, IL1B, IL6, TNF, TGFBR1, SLC2A1
24	adp32 18	8.8	TIE1, TGFBR1, TGFBR2, PECAM1, EPHB4, FLT1
25	sb 20358032 42	8.8	MMP3, MMP9, VEGFA, FLT1, IL17A, IL6
26	paraffin32	7.7	FLT4, IL5, APOE, ENG, ANGPT2, TEK
27	atorvastatin32 34 9 18 9	11.5	VEGFA, PIK3C2A, ABCC5, EDN1, MMP9, PLAT
28	thymidine32 18	8.4	SMAD4, HIF1A, EPHB4, IL1B, EDN1, KDR
29	tgf beta132	7.3	IL6, ENG, F8, TNF, PTEN, SMAD4
30	cholesterol32 9 18 9	10.2	ANGPTL4, REN, MMP3, FLT1, PIK3C2A, IL6
31	pd 98,05932	7.2	HIF1A, EDN1, SMAD4, PTEN, SLC2A1, TNF
32	lactate32	7.1	IL6, ALB, HMOX1, MMP9, SMAD4, RNASE3
33	alanine32	7.1	HMOX1, PTEN, F2, APOE, IL6, MMP9
34	curcumin32	7.1	MMP9, VEGFA, IL17A, IL1B, CASP9, TNF
35	methotrexate32 34 42 9 9	11.0	HIF1A, ABCC5, TNF, ALB, F2, IL6
36	prostacyclin32	6.9	EDN1, PECAM1, PLAT, TNF, KDR, VEGFA
37	simvastatin32 34 42 9 18 9	11.8	VEGFA, KDR, MMP9, CASP9, F2, APOE
38	lipid32	6.7	RNASE3, IL17A, PIK3C2A, TGFBR1, F8, ALB
39	indomethacin32 9 9	8.4	ALB, PLAT, TNF, HMOX1, IL5, APOE
40	n acetylcysteine32	6.4	F2, CASP9, HMOX1, MMP9, VEGFA, KDR
41	actinomycin d32	6.4	SLC2A1, APOE, CASP9, IL6, MMP9, HMOX1
42	vegf32	6.4	PECAM1, NES, EFNA1, EPHB4, SLC2A1, PIK3C2A
43	genistein32 9 18 9	9.3	IL6, CASP9, TNF, PTEN, EDN1, HIF1A
44	retinoic acid32 42 18	8.1	HIF1A, TNF, PTEN, PLAT, RNASE3, TGFBR1
45	nitric oxide32 9 18 9	9.0	ANGPT2, F8, HMOX1, TNF, TEK, PTEN
46	cycloheximide32	5.7	HIF1A, TGFBR1, TGFBR2, SLC2A1, PECAM1, HMOX1
47	serine32	5.7	CASP9, TNF, TEK, PTEN, SMAD4, MMP9
48	tyrosine32	5.6	TIE1, HIF1A, RNASE3, SMAD4, PTEN, TEK
49	dexamethasone32 42 34 9 9	9.5	MMP12, CASP9, HMOX1, TNF, RNASE3, HIF1A
50	cyclosporin a32 42	6.5	PIK3C2A, KDR, MMP3, TNF, PLAT, RNASE3

Cellular components related to arteriovenous malformation according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor homodimeric complex	GO:070022	10.2	TGFBR2, TGFBR1, ENG
2	platelet alpha granule lumen	GO:031093	9.2	ALB, F8, VEGFB, VEGFA
3	proteinaceous extracellular matrix	GO:005578	9.1	VEGFA, MMP12, MMP3, MMP9, ANGPTL4, LTBP2
4	external side of plasma membrane	GO:009897	8.9	TGFBR2, TNF, ENG, IL17A, ITGAV, KDR
5	integral to plasma membrane	GO:005887	8.5	EPHB4, EFNA1, TIE1, ACVRL1, ABCC5, NOTCH4
6	cell surface	GO:009986	8.4	EPHB4, ACVRL1, NOTCH4, PLAT, TEK, TNF
7	plasma membrane	GO:005886	6.2	TEK, PTEN, NOTCH4, ABCC5, TGFBR1, TGFBR2
8	extracellular region	GO:005576	5.2	PLAT, TEK, ALB, F2, NOTCH4, RNASE3
9	extracellular space	GO:005615	4.0	REN, ANGPTL4, F8, F2, ALB, HMOX1

Biological processes related to arteriovenous malformation according to GeneDecks:

(show top 50)    (show all 53)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	10.6	TGFBR1, ACVRL1, SMAD4, ENG
2	sprouting angiogenesis	GO:002040	10.6	TEK, FLT4, FLT1
3	peptidyl-tyrosine phosphorylation	GO:018108	10.4	TEK, FLT4, FLT1, KDR
4	negative regulation of blood vessel endothelial cell migration	GO:043537	10.3	ACVRL1, ANGPT2, APOE
5	blood vessel morphogenesis	GO:048514	10.3	PLAT, FLT4, FLT1
6	transforming growth factor beta receptor signaling pathway	GO:007179	10.2	TGFBR2, TGFBR1, ACVRL1, LTBP2, SMAD4, ENG
7	cellular response to vascular endothelial growth factor stimulus	GO:035924	10.2	VEGFA, KDR, FLT1, FLT4
8	positive regulation of focal adhesion assembly	GO:051894	10.2	TEK, KDR, VEGFA
9	transmembrane receptor protein tyrosine kinase signaling pathway	GO:007169	10.2	TEK, FLT4, FLT1, KDR
10	vascular endothelial growth factor receptor signaling pathway	GO:048010	10.2	FLT4, FLT1, KDR, VEGFB, VEGFA
11	patterning of blood vessels	GO:001569	10.1	FLT1, ENG, NOTCH4, EDN1, TGFBR2
12	cell migration involved in sprouting angiogenesis	GO:002042	10.1	EPHB4, KDR, VEGFA
13	positive regulation of endothelial cell proliferation	GO:001938	10.0	HIF1A, ACVRL1, TEK, FLT4, KDR, VEGFB
14	cellular response to interleukin-1	GO:071347	10.0	MMP9, IL17A, EDN1, HIF1A
15	vasculogenesis	GO:001570	10.0	TGFBR2, ENG, KDR, RASA1, VEGFA
16	positive regulation of chemokine-mediated signaling pathway	GO:070101	10.0	HIF1A, EDN1
17	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	10.0	TEK, F2, FLT1, KDR
18	positive regulation of endothelial cell migration	GO:010595	9.9	EDN1, TEK, FLT4, KDR, VEGFA
19	platelet degranulation	GO:002576	9.8	PECAM1, ALB, F8, VEGFB, VEGFA
20	positive regulation of MAPK cascade	GO:043410	9.7	IL6, FLT4, FLT1, KDR
21	positive regulation of vascular endothelial growth factor receptor signaling pathway	GO:030949	9.7	HIF1A, IL1B, FLT1, VEGFB, VEGFA
22	leukocyte migration	GO:050900	9.7	PECAM1, TEK, F2, ANGPT2, ITGAV
23	positive regulation of cell migration	GO:030335	9.6	EDN1, FLT1, ITGAV, KDR, VEGFA
24	positive regulation of protein kinase B signaling cascade	GO:051897	9.6	TGFBR1, TEK, TNF, VEGFB
25	cell adhesion	GO:007155	9.4	EPHB4, EMILIN2, PECAM1, ERBB2IP, F8, ENG
26	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.4	EFNA1, IL6, IL5, VEGFB, VEGFA
27	positive regulation of chemokine biosynthetic process	GO:045080	9.4	TNF, HMOX1, IL1B
28	negative regulation of lipid storage	GO:010888	9.3	ITGAV, IL6, TNF
29	positive regulation of ERK1 and ERK2 cascade	GO:070374	9.3	TEK, TNF, IL1B, FLT4, KDR, VEGFB
30	heart development	GO:007507	9.3	TGFBR1, EDN1, PTEN, TEK, TGFBR2
31	positive regulation of chemokine production	GO:032722	9.2	IL6, TNF, HIF1A
32	positive regulation of membrane protein ectodomain proteolysis	GO:051044	9.2	TNF, APOE, IL1B
33	positive regulation of MAP kinase activity	GO:043406	9.2	VEGFA, FLT1, TNF, EDN1
34	angiogenesis	GO:001525	9.1	VEGFA, EPHB4, EFNA1, TIE1, HIF1A, ACVRL1
35	positive regulation of angiogenesis	GO:045766	9.1	HIF1A, TEK, HMOX1, ANGPTL4, ANGPT2, IL1B
36	signal transduction	GO:007165	9.0	PECAM1, TGFBR1, TIE1, HIF1A, ACVRL1, TEK
37	positive regulation of smooth muscle cell proliferation	GO:048661	9.0	HIF1A, EDN1, TNF, HMOX1, IL6, FLT1
38	positive regulation of peptidyl-serine phosphorylation	GO:033138	8.9	VEGFA, IL6, TNF, TEK
39	anti-apoptosis	GO:006916	8.8	TEK, TNF, HMOX1, APOE, IL1B, VEGFB
40	platelet activation	GO:030168	8.7	PECAM1, ALB, F2, F8, IL6, VEGFB
41	response to drug	GO:042493	8.5	NES, TGFBR2, TIMP4, EDN1, TNF, MMP9
42	blood coagulation	GO:007596	8.5	PECAM1, PLAT, TEK, ALB, F2, F8
43	positive regulation of sequence-specific DNA binding transcription factor activity	GO:051091	8.4	PTEN, TNF, IL6, IL5, IL1B
44	positive regulation of protein phosphorylation	GO:001934	8.3	TEK, TNF, F2, ENG, IL1B, FLT4
45	proteolysis	GO:006508	8.2	PLAT, CASP9, F2, MEP1A, MMP9, MMP3
46	negative regulation of apoptotic process	GO:043066	8.1	TNF, TEK, PTEN, NES, ALB, ANGPTL4
47	positive regulation of transcription, DNA-dependent	GO:045893	8.1	NOTCH4, ACVRL1, HIF1A, TGFBR1, SMAD4, TNF
48	positive regulation of cell proliferation	GO:008284	8.1	TGFBR2, TGFBR1, EDN1, PTEN, F2, IL6
49	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.9	HIF1A, ACVRL1, SMAD4, TNF, ENG, IL6
50	response to hypoxia	GO:001666	7.6	TNF, SMAD4, PLAT, EDN1, HIF1A, ANGPTL4

Molecular functions related to arteriovenous malformation according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	vascular endothelial growth factor-activated receptor activity	GO:005021	10.4	FLT4, FLT1, KDR
2	transforming growth factor beta-activated receptor activity	GO:005024	10.3	TGFBR2, TGFBR1, ACVRL1, ENG
3	growth factor binding	GO:019838	10.3	TGFBR1, LTBP2, FLT4, FLT1, KDR
4	transmembrane receptor protein serine/threonine kinase activity	GO:004675	10.2	TGFBR2, TGFBR1, ACVRL1
5	transmembrane receptor protein tyrosine kinase activity	GO:004714	10.2	EPHB4, TIE1, TEK, FLT4, FLT1, KDR
6	transforming growth factor beta binding	GO:050431	10.1	TGFBR2, TGFBR1, ACVRL1, ENG, ITGAV
7	Hsp90 protein binding	GO:051879	10.0	HIF1A, UNC45A, KDR
8	glycosaminoglycan binding	GO:005539	10.0	ENG, EGFLAM, TGFBR2
9	vascular endothelial growth factor receptor 1 binding	GO:043183	9.7	VEGFA, VEGFB
10	receptor binding	GO:005102	8.9	EFNA1, F2, ANGPTL4, ANGPT2, ITGB8, RASA1
11	growth factor activity	GO:008083	8.1	F2, IL6, IL5, IL1B, VEGFB, VEGFA
12	cytokine activity	GO:005125	7.5	EDN1, TNF, IL6, IL5, IL1B, IL17A
13	protein binding	GO:005515	3.9	EPHB4, TRIM2, TNF, TEK, PTEN, SMAD4