Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79651
Gene Symbol: RHBDF2
RHBDF2
0.010 Biomarker disease BEFREE Ga-DOTA-TOC imaging demonstrated increased DOTA-TOC uptake in pancreas tail and intramedullary and extramedullary spinal hemangioblastomas, only some of which have already been highlighted at MRI examination. 30516678 2019
Entrez Id: 11236
Gene Symbol: RNF139
RNF139
0.010 GeneticVariation disease BEFREE A Novel RNF139 Mutation in Hemangioblastomas: Case Report. 31031691 2019
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
0.010 AlteredExpression disease BEFREE In the meantime, TNF superfamily 15 (TNFSF15) (also known as vascular endothelial growth inhibitor), an antiangiogenic cytokine, is highly expressed in normal brain blood vessels but diminished in HB lesions. 31242765 2019
Entrez Id: 3958
Gene Symbol: LGALS3
LGALS3
0.010 AlteredExpression disease BEFREE Most stromal cells in the RAP/RCH-like lesions were Sox9+, suggesting a Müller glia origin, and expressed Lgals3, a marker of human brain hemangioblastoma. 31613797 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 Biomarker disease BEFREE 68Ga DOTATATE PET/CT Versus 18F-FDG PET/CT for Detecting Intramedullary Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. 30985433 2019
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
0.010 AlteredExpression disease BEFREE The β2-adrenergic receptor antagonist ICI-118,551 blocks the constitutively activated HIF signalling in hemangioblastomas from von Hippel-Lindau disease. 31296894 2019
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.010 Biomarker disease BEFREE We further investigated SDHB immunoexpression in 35 cases of hemangioblastoma and found that 28 (80%) showed either negative or weak-diffuse pattern of SDHB immunoexpression, which suggests the inactivation of SDH. 30971719 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 AlteredExpression disease BEFREE In the meantime, TNF superfamily 15 (TNFSF15) (also known as vascular endothelial growth inhibitor), an antiangiogenic cytokine, is highly expressed in normal brain blood vessels but diminished in HB lesions. 31242765 2019
Entrez Id: 2271
Gene Symbol: FH
FH
0.010 GeneticVariation disease BEFREE Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. 29619618 2019
Entrez Id: 5933
Gene Symbol: RBL1
RBL1
0.010 Biomarker disease BEFREE Rb1/Rbl1/Vhl loss induces mouse subretinal angiomatous proliferation and hemangioblastoma. 31613797 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.010 AlteredExpression disease BEFREE Interestingly, VHL-related HBs displayed increased fibroblast growth factor receptor 3 (FGFR3) protein expression when compared to VHL-related ccRCCs. 29805741 2018
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
0.010 AlteredExpression disease BEFREE This study aimed to determine the expression of angiopoietin-1 (Ang-1), angiopoietin-2 (Ang-2), and endothelial tyrosine kinase receptor (Tie-2) in central nervous system (CNS) hemangioblastomas (HBs) and explore the correlation with peritumoral cyst formation. 28041961 2017
Entrez Id: 1825
Gene Symbol: DSC3
DSC3
0.010 Biomarker disease BEFREE The aim of this study was to differentiate hemangioblastomas from metastatic brain tumors using dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and compare the diagnostic performances with diffusion-weighted imaging (DWI) and dynamic susceptibility contrast magnetic resonance imaging (DSC-MRI). 26952018 2017
Entrez Id: 738
Gene Symbol: VPS51
VPS51
0.010 Biomarker disease BEFREE Ang-2 shows great potential as an effective therapeutic target of symptomatic CNS HBs associated with cysts. 28041961 2017
Entrez Id: 6751
Gene Symbol: SSTR1
SSTR1
0.010 AlteredExpression disease BEFREE We explored this possibility by demonstrating consistent histologic expression of SSTR1, 2a, 4, and 5 in VHL-HBs. 28094316 2017
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
0.010 Biomarker disease BEFREE We demonstrated a massive upregulation of mRNA levels of VEGF and VEGFR2, CXCR4 and SDF1α, EphB4 and EphrinB2, as well as the main components of Dll4-Notch signaling in HB. 27388534 2017
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.010 GeneticVariation disease BEFREE We found that conditionally expressing mutant Kras, using Rag1-Cre, gave rise to CNS haemangioblastoma in the cortex and cerebellum in mice that present with highly vascular tumours with stromal cells similar to human haemangioblastomas. 28322325 2017
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
0.010 AlteredExpression disease BEFREE To further confirm the differential expression of Ang-1 and Ang-2 between cystic and solid HBs, an additional 9 frozen specimens from 5 cyst-associated and 4 solid solitary HBs were collected for Western blot analysis. 28041961 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.010 Biomarker disease BEFREE Endothelial cells by inactivation of VHL gene direct angiogenesis, not vasculogenesis via Twist1 accumulation associated with hemangioblastoma neovascularization. 28710479 2017
Entrez Id: 7010
Gene Symbol: TEK
TEK
0.010 Biomarker disease BEFREE The expression levels of Ang-1, Ang-2 and Tie-2 in cystic and solid HBs were estimated and compared according to the integrated optical density (IOD) of staining in the sections. 28041961 2017
Entrez Id: 581
Gene Symbol: BAX
BAX
0.010 Biomarker disease BEFREE We found that somatostatin analogue octreotide induces apoptosis in VHL-HB stromal cells in a dose-dependent fashion by BAX - caspase-3 pathway unrelated to canonical VHL pathway. 28094316 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.010 Biomarker disease BEFREE We demonstrated a massive upregulation of mRNA levels of VEGF and VEGFR2, CXCR4 and SDF1α, EphB4 and EphrinB2, as well as the main components of Dll4-Notch signaling in HB. 27388534 2017
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
0.010 AlteredExpression disease BEFREE Taken together, the present data suggested that CD41 and CD45 expression marked the onset of HB neovascularisation and the stepwise development of the angioformative period. 26468019 2016
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.010 AlteredExpression disease BEFREE CD41 and CD45 expression marks the angioformative initiation of neovascularisation in human haemangioblastoma. 26468019 2016
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.010 GeneticVariation disease BEFREE Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. 26514359 2016