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Genes (20)
Species: human : 18 mouse : 2 | |
Mouse | PGF | 5228 | placental growth factor | In mice, VEGF-A(164/165) induced a transient angiogenic response (mother vessels, glomeruloid bodies, daughter capillaries), and stable arteriovenous malformations, arteriogenesis, and lymphangiogenesis; whereas PlGF only induced the formation of large, stable blood vessels. | Mouse | NOTCH4 | 4855 | notch 4 | Endothelial expression of constitutively active Notch4 elicits reversible arteriovenous malformations in adult mice. | Human | INHBE | 83729 | inhibin, beta E | Arteriovenous malformations in mice lacking activin receptor-like kinase-1. | Human | AGGF1 | 55109 | angiogenic factor with G patch and FHA domains 1 | INFERRED, Score=800, UMLKSK CUI: C0003857 | Human | NES | 10763 | nestin | Reinduced expression of developmental proteins (nestin, small heat shock protein) in and around cerebral arteriovenous malformations. In an attempt to define the effect of ischemic hemodynamic stress caused by cerebral arteriovenous malformation (AVM) on the brain parenchyma, we examined the synthesis and cellular distribution of sHSP and nestin in vascular elements of AVMs and in the gliotic area surrounding AVMs. | Human | VEGFA | 7422 | vascular endothelial growth factor A | key role of abnormal angiogenesis in arteriovenous malformation pathophysiology suggesting that a disruption in systemic VEGF expression may contribute to the natural history of these lesions | Human | TNF | 7124 | tumor necrosis factor | a TNF-alpha SNsingle-nucleotide polymorphism may be associated with increased risk of new intracranial hemorrhage in the natural course of brain arteriovenous malformations | Human | SLC6A3 | 6531 | solute carrier family 6 (neurotransmitter transporter), member 3 | Hemi-parkinsonism due to a midbrain arteriovenous malformation: dopamine transporter imaging. | Human | RASA1 | 5921 | RAS p21 protein activator (GTPase activating protein) 1 | RASA1: variable phenotype with capillary and arteriovenous malformations. the spectrum of clinical manifestations due to mutations in RASA1 is wider than previously thought and also includes typical CMs not associated with AVM/AVF | Human | QDPR | 5860 | quinoid dihydropteridine reductase | Other conditions associated with calcification were Sturge-Weber syndrome, neurofibromatosis, Cockaynes syndrome, hypoparathyroidism, arteriovenous malformations, vein of Galen aneurysm, encephalomalacia, cerebral infarcts, subdural hematoma, cerebral infections, birth asphyxia and dihydropteridine reductase deficiency. | Human | PROS1 | 5627 | protein S (alpha) | Multiple arteriovenous malformations of the small intestine in a patient with protein S deficiency. We describe 10 patients with cerebral venous thrombosis: two had protein S deficiency, one had protein C deficiency, one was in early pregnancy, and there was a single case of each of the following: dural arteriovenous malformation, intracerebral arteriovenous malformation, bilateral glomus tumours, systemic lupus erythematosus, Wegener;s granulomatosis, non-Hodgkin;s lymphoma. The authors report a case of arteriovenous malformations (AVMs) of the small intestine in a young patient with protein S deficiency. | Human | SMAD4 | 4089 | SMAD family member 4 | Pulmonary AV malformation | Human | ITGAV | 3685 | integrin, alpha V | Characterization of the Integrin alphavbeta3 in Arteriovenous Malformations and Cavernous Malformations. | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | IL-6-174G>C polymorphism may be a risk factor for brain arteriovenous malformation in Latinos A polymorphism in the inflammatory cytokine IL6, but not polymorphisms in angiogenesis-related genes, was associated with intracranial hemorrhage presentation of brain arteriovenous malformation Results suggest that the IL-6 genotype associated with intracranial hemorrhage modulates IL-6 expression in brain arteriovenous malformation tissue | Human | IGF1R | 3480 | insulin-like growth factor 1 receptor | INFERRED, Score=800, UMLKSK CUI: C0003857 | Human | HMOX1 | 3162 | heme oxygenase (decycling) 1 | INFERRED, Score=800, UMLKSK CUI: C0003857 | Human | ENG | 2022 | endoglin | Click here to display 21 evidence detail records. | Human | CPOX | 1371 | coproporphyrinogen oxidase | We analyzed CSF samples collected intraoperatively from predominantly pediatric patients with moyamoya and other conditions such as Chiari malformation (Ch), tethered cord (TC), arteriovenous malformation (AVM), brain tumor (BT) and hydrocephalus (HCP). | Human | APOE | 348 | apolipoprotein E | ApoE epsilon2 carriers have an increased risk of intracerebral hemorrhage in brain arteriovenous malformations | Human | ACVRL1 | 94 | activin A receptor type II-like 1 | Click here to display 18 evidence detail records. |
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