×
Entrez Id:
5979
Gene Symbol:
RET
RET
Neoplastic Syndromes, Hereditary
0.200
GeneticVariation
CLINVAR
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
The positive regulation of p53 by the tumor suppressor VHL.
16969113
2006
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
22241717
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
15611064
2005
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
12114495
2002
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.
11058902
2000
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Genetic testing for cancer predisposition.
11160785
2001
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
VHL type 2B mutations retain VBC complex form and function.
19030229
2008
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
19602254
2009
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.
19228690
2009
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
BAP1 loss defines a new class of renal cell carcinoma.
22683710
2012
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
9829912
1998
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
24678776
2014
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
14500403
2003
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.
20660572
2010
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.
27311873
2016
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
10567493
1999
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Neoplastic Syndromes, Hereditary
0.180
GeneticVariation
CLINVAR
Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein.
27179072
2016
×
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
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
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
GeneticVariation
CLINVAR
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
7563486
1995