×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
29748190
2018
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB , and SDHD Genes: Thai Experience.
28469506
2017
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.
28379443
2017
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.
28388566
2017
×
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
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.
26920352
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
27034144
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.
26973240
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
GeneticVariation
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
GESPA: classifying nsSNPs to predict disease association.
26206375
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.
26503325
2015
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
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
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
25078357
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
25371412
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.
23673869
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
24707167
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma.
24446253
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
24555745
2014