Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 51129
Gene Symbol: ANGPTL4
ANGPTL4 		0.010 AlteredExpression disease BEFREE 40 (98%) hemangioblastomas expressed angptl4 whereas all pheochromocytomas (n = 23) and pancreatic tumors (n = 25) were angptl4-negative, whatever their VHL status. 20454689 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 AlteredExpression disease BEFREE 40 (98%) hemangioblastomas expressed angptl4 whereas all pheochromocytomas (n = 23) and pancreatic tumors (n = 25) were angptl4-negative, whatever their VHL status. 20454689 2010
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: 80316
Gene Symbol: PPP1R2C
PPP1R2C 		0.010 Biomarker disease BEFREE Hemangioblastomas (HBs) are low-grade (World Health Organization grade I/IV) central nervous system (CNS) tumors that frequently contain VHL (3p26) mutations. 15343513 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. 28742274 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE Hemangioblastomas (HBs) are benign, highly vascular tumors, often characterized by loss of function of the von Hippel-Lindau (vHL) gene. 29027018 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 Biomarker disease BEFREE Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. 29619618 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: 3091
Gene Symbol: HIF1A
HIF1A 		0.350 Biomarker disease BEFREE HIF-1alpha was detected in tumor cell nuclei of both hemangioblastomas and CC-RCCs. 16024619 2005
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4 		0.060 AlteredExpression disease BEFREE CXCR4, a CXC chemokine receptor is also expressed in retinal VHL hemangioblastomas. 17218907 2007
Entrez Id: 768
Gene Symbol: CA9
CA9 		0.010 Biomarker disease BEFREE Carbonic anhydrase IX staining in particular may be a helpful marker of hemangioblastomas but does not aid in the distinction from CCRCC. 25310734 2014
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: 7428
Gene Symbol: VHL
VHL 		0.100 Biomarker disease BEFREE VHL protein/HIF pathway has been implicated in tumorigenesis for hemangioblastomas, RCC and other VHL tumors. 26564077 2015
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: 7428
Gene Symbol: VHL
VHL 		0.100 PosttranslationalModification disease BEFREE VHL promoter hypermethylation was detected only in sporadic HBs (33%), indicating that epigenetic suppression of VHL is a common mechanism in sporadic HBs. 28379443 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		0.100 Biomarker disease BEFREE Vascular endothelial growth factor inhibition continuity is a good therapeutic option, which improves outcomes of von Hippel-Lindau-related hemangioblastomas. 31694494 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene. 21384277 2011
Entrez Id: 11236
Gene Symbol: RNF139
RNF139 		0.010 GeneticVariation disease BEFREE A Novel RNF139 Mutation in Hemangioblastomas: Case Report. 31031691 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family. 30477447 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect. 19288063 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.100 GeneticVariation disease BEFREE Additional samples of pure stromal cells need to be analyzed to establish the prevalence of VHL gene deletion in stromal cells of capillary hemangioblastoma and, hence, its pathogenetic significance. 9158701 1997
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1 		0.020 AlteredExpression disease BEFREE Additionally, the loss of ZAC expression was also found to be frequent in a series of capillary hemangioblastomas and gliomas (6 of 6, 100%, and 17 of 27, 63%, respectively) examined for comparison. 21872827 2011
Entrez Id: 353174
Gene Symbol: ZACN
ZACN 		0.010 AlteredExpression disease BEFREE Additionally, the loss of ZAC expression was also found to be frequent in a series of capillary hemangioblastomas and gliomas (6 of 6, 100%, and 17 of 27, 63%, respectively) examined for comparison. 21872827 2011