×
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
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
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
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
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
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
CausalMutation
CLINVAR
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.
10697963
2000
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
22799452
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis.
16809612
2006
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.
10088816
1999
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
21715564
2011
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas.
12853836
2003
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
17997830
2007
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
14500403
2003