Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.010 Biomarker disease BEFREE Thus, serial measurements of serum VEGF and endostatin after SRS might help predict RICs in patients with arteriovenous malformation treated by SRS. 30831282 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.010 GeneticVariation disease BEFREE Somatic mutations in HRAS can cause AVM. 31637524 2019
Entrez Id: 257
Gene Symbol: ALX3
ALX3
0.010 Biomarker disease BEFREE aOR = adjusted odds ratio; AVM = arteriovenous malformation; FND = focal neurological deficit; GCS = Glasgow Coma Scale; mRS = modified Rankin Scale. 30952115 2019
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
0.010 Biomarker disease BEFREE Culprit gene mutations typically involve two major signaling pathways; the RAS/MAPK/ERK pathway is typically involved in fast-flow arteriovenous malformations, whereas the PI3K/AKT/mTOR pathway is typically mutated in slow-flow venous and lymphatic malformations. 30922748 2019
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.010 Biomarker disease BEFREE Radiation-Stimulated Translocation of CD166 and CRYAB to the Endothelial Surface Provides Potential Vascular Targets on Irradiated Brain Arteriovenous Malformations. 31757032 2019
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.010 Biomarker disease BEFREE We assessed DAPK localization with hypoxic inducible factor (HIF-1α) and vascular endothelial growth factor (VEGF) in epilepsy, BT, and AVM. 30414085 2019
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
0.010 Biomarker disease BEFREE N-BCA injection into AVM can result in premature distal migration or early precipitation and reflux into the feeder vessels. 30851033 2019
Entrez Id: 6285
Gene Symbol: S100B
S100B
0.010 Biomarker disease BEFREE The purpose of this study is to determine whether elevation of S100B is associated with increased in-hospital mortality after brain arteriovenous malformation rupture. 31009346 2019
Entrez Id: 214
Gene Symbol: ALCAM
ALCAM
0.010 Biomarker disease BEFREE Radiation-Stimulated Translocation of CD166 and CRYAB to the Endothelial Surface Provides Potential Vascular Targets on Irradiated Brain Arteriovenous Malformations. 31757032 2019
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.010 Biomarker disease BEFREE EC-specific suppression of Sox2 normalized endothelial differentiation and lumen formation and improved the cerebral AVMs. 31232700 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 GeneticVariation disease BEFREE Methylation of the CDKN2A Gene Increases the Risk of Brain Arteriovenous Malformations. 31325108 2019
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
0.010 Biomarker disease BEFREE Culprit gene mutations typically involve two major signaling pathways; the RAS/MAPK/ERK pathway is typically involved in fast-flow arteriovenous malformations, whereas the PI3K/AKT/mTOR pathway is typically mutated in slow-flow venous and lymphatic malformations. 30922748 2019
Entrez Id: 9961
Gene Symbol: MVP
MVP
0.010 GeneticVariation disease BEFREE We performed a retrospective medical record review of 52 patients with 119 PAVMs treated exclusively with MVP™ systems (69 procedures/153 MVP™ systems) between July 2014 and July 2018. 30430217 2019
Entrez Id: 27302
Gene Symbol: BMP10
BMP10
0.010 Biomarker disease BEFREE Together, our findings support a unique role for Bmp10 as a non-redundant Alk1 ligand required to maintain the post-embryonic vasculature and establish zebrafish bmp10 mutants as a model for AVM-associated high-output heart failure, which is an increasingly recognized complication of severe liver involvement in HHT2. 31828546 2019
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.010 AlteredExpression disease BEFREE Expression of osteopontin, matrix metalloproteinase-2 and -9 proteins in vascular instability in brain arteriovenous malformation. 31275742 2019
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.010 GeneticVariation disease BEFREE Methods A retrospective review was performed on AVM patients treated via GKRS with a 4D-CTA prior to the day of treatment, on the day of treatment, or with a day-of-treatment angiogram. 30112264 2018
Entrez Id: 290
Gene Symbol: ANPEP
ANPEP
0.010 Biomarker disease BEFREE Pericyte coverage positively correlated with the mean transit time of blood flow or the time that circulating blood spends within the bAVM nidus (CD13: r = 0.60, p < 0.05; PDGFRβ: r = 0.63, p < 0.05). 29303444 2018
Entrez Id: 105375847
Gene Symbol: CERNA3
CERNA3
0.010 GeneticVariation disease BEFREE Methods A retrospective review was performed on AVM patients treated via GKRS with a 4D-CTA prior to the day of treatment, on the day of treatment, or with a day-of-treatment angiogram. 30112264 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.010 Biomarker disease BEFREE Additional analysis demonstrated 52% and 50% reductions in the vascular surface area covered by CD13- and PDGFRβ-positive pericyte cell processes, respectively, in bAVMs (p < 0.01). 29303444 2018
Entrez Id: 9506
Gene Symbol: PAGE4
PAGE4
0.010 Biomarker disease BEFREE The transsylvian approach, however, is technically and anatomically more challenging and potentially carries a higher risk of vascular injury and vasospasm.Page 1 and figures from Fernández-Miranda JC et al, Microvascular Anatomy of the Medial Temporal Region: Part 1: Its Application to Arteriovenous Malformation Surgery, Operative Neurosurgery, 2010, Volume 67, issue 3, ons237-ons276, by permission of the Congress of Neurological Surgeons (1:26-1:37 in video).Page 1 from Fernández-Miranda JC et al, Three-Dimensio-nal Microsurgical and Tractographic Anatomy of the White Matter of the Human Brain, Neurosurgery, 2008, Volume 62, issue suppl_3, SHC989-SHC1028, by permission of the Congress of Neurological Surgeons (1:54-1:56 in video). 29878277 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.010 Biomarker disease BEFREE Although further prospective trials are needed, this report suggests the benefit of a mammalian target of rapamycin inhibitor as an adjuvant therapy for surgical embolization of complex, extracranial head and neck arteriovenous malformations. 30326494 2018
Entrez Id: 5784
Gene Symbol: PTPN14
PTPN14
0.010 GeneticVariation disease BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521 2018
Entrez Id: 8712
Gene Symbol: PAGE1
PAGE1
0.010 Biomarker disease BEFREE The transsylvian approach, however, is technically and anatomically more challenging and potentially carries a higher risk of vascular injury and vasospasm.Page 1 and figures from Fernández-Miranda JC et al, Microvascular Anatomy of the Medial Temporal Region: Part 1: Its Application to Arteriovenous Malformation Surgery, Operative Neurosurgery, 2010, Volume 67, issue 3, ons237-ons276, by permission of the Congress of Neurological Surgeons (1:26-1:37 in video).Page 1 from Fernández-Miranda JC et al, Three-Dimensio-nal Microsurgical and Tractographic Anatomy of the White Matter of the Human Brain, Neurosurgery, 2008, Volume 62, issue suppl_3, SHC989-SHC1028, by permission of the Congress of Neurological Surgeons (1:54-1:56 in video). 29878277 2018
Entrez Id: 10365
Gene Symbol: KLF2
KLF2
0.010 AlteredExpression disease BEFREE Immunofluorescent staining demonstrated that expression of KLF2, a vascular maturation marker is significantly (P <0.001) decreased in AVM vessels and was further confirmed by western blot analysis (P < 0.001). 29897969 2018
Entrez Id: 3696
Gene Symbol: ITGB8
ITGB8
0.010 GeneticVariation disease BEFREE We genotyped 11 candidate variants: four variants reported as associated with lung AVM in HHT (PTPN14 rs2936018, USH2A rs700024, ADAM17 rs12474540, rs10495565), and seven variants reported as associated with sporadic BAVM or ICH (APOE ε2, ANGPTL4 rs11672433, EPHB4 rs314308, IL6 rs1800795, IL1B rs1143627, ITGB8 rs10486391, TNFA rs361525). 29932521 2018