×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
CLINVAR
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.
26920352
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
27034144
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
CLINVAR
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
27057652
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.
26973240
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
27530247
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
25562111
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
25563310
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
GeneticVariation
disease
CLINVAR
Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
25557216
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease.
24206762
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
24555745
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.
24301059
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
25371412
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
24707167
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
GermlineCausalMutation
disease
ORPHANET
Genetic basis of congenital erythrocytosis: mutation update and online databases.
24115288
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.
23512077
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
GeneticVariation
disease
CLINVAR
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
23772956
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
CLINVAR
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
23859443
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
23772956
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.
23327821
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.
23840444
2013
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
0.900
CausalMutation
disease
CLINVAR
A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease.
23632291
2013