×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.
8772572
1996
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.
27617348
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
"Is the P25L a ""real"" VHL mutation?"
11257211
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
8707293
1996
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
BEFREE
Mutations in von Hippel-Lindau tumor suppressor gene (VHL) underlie the VHL hereditary cancer syndrome and also occur in most sporadic clear cell renal cell cancers (CCRCC).
16585181
2006
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.
23660872
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
27439424
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
12510195
2003
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.
12050673
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
24466223
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.
10900011
2000
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
7563486
1995
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface.
23102223
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
25952756
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface.
23102223
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
15642680
2005
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Genetic analysis of von Hippel-Lindau disease.
20151405
2010
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
17661816
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
12415268
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
17264095
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
7987306
1994
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
8707293
1996
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
12202531
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
CausalMutation
CLINVAR
Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.
14636579
2003