×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.
20064270
2010
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.
8825919
1995
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.
23626751
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
19336503
2009
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
In order to establish VHL gene testing, we analyzed three families affected by VHL disease, using SSCP mutation screening and DNA sequencing.
17688370
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.
23788753
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.
11309459
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.
7553625
1995
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
25867206
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
[Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease].
15002726
2004
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.
14987375
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
20560986
2011
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
In order to establish VHL gene testing, we analyzed three families affected by VHL disease, using SSCP mutation screening and DNA sequencing.
17688370
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
21362373
2011
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
12844285
2003
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
19252526
2009
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
19304954
2009
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma.
12603429
2003
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
11483638
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Germ-line mutations in nonsyndromic pheochromocytoma.
12000816
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau disease (VHL ) gene in mainland Chinese families.
18446368
2008
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.
12114475
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.
17102082
2006