VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Hemangioblastomas and neurogenic polyglobulia. 23407287 2013
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452 2012
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 22357542 2012
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation. 22071692 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 Biomarker disease GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 GeneticVariation disease CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165 2011
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease. 20064270 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability. 20855504 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 GeneticVariation disease CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 GeneticVariation disease CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. 20447124 2010
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 GeneticVariation disease CLINVAR Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 GeneticVariation disease CLINVAR Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? 19029228 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 CausalMutation disease CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009