VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Von Hippel-Lindau Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211 2001
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211 2001
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE (1) Presence or absence of germline mutation in the RET proto-oncogene in affected and unaffected members of the 10 families, and (2) in the absence of RET mutation in a given family, presence or absence of germline mutation in the von Hippel-Lindau (VHL) gene, which is the susceptibility gene involved in a closely related syndrome, von Hippel-Lindau disease. 7563486 1995
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE von Hippel-Lindau disease anchored in germline mutations of the VHL gene is rare in the Norwegian population as opposed to clinical VHL disease, which appears to be relatively common in patients with apparently sporadic hemangioblastomas. 19814753 2010
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. 20687511 2010
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE Von Hippel-Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. 29601266 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE VHL gene mutation analysis was performed in both patients' family members, which showed another affected asymptomatic subject for VHL disease. 15918937 2005
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease BEFREE VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. 20431476 2010
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease BEFREE VHL protein/HIF pathway has been implicated in tumorigenesis for hemangioblastomas, RCC and other VHL tumors. 26564077 2015
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE VHL gene mutations were documented in 3/9 cases in which DNA from peripheral blood lymphocytes was used, all with clinically manifest von Hippel-Lindau disease; instead, no VHL gene alterations were found in all of the 8 cases with sporadic extraneuraxial hemangioblastoma in which DNA from tumor tissue was analyzed. 29941223 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease BEFREE VHL gene has a critical role for the etiology in VHL in Japanese populations as well as Western VHL. 8634692 1995
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease. 23632291 2013
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease. 23632291 2013
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. 8863170 1996
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE A family with a medical history suggestive of VHL disease was investigated using DNA sequence analysis to determine the presence of the P25L variant of the VHL protein. 16884327 2006
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene. 10697963 2000
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease. 30477447 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A novel Von Hippel-Lindau case with germline mutation at codon 167 (CGG to TGG) having endocrine microadenomatosis of the pancreas. 17406817 2007
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. 18584357 2008
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C. 17922902 2007
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation disease CLINVAR A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma. 12603429 2003
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013