rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
25371412
2014
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
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
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.
24301059
2014
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
21715564
2011
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
19602254
2009
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
19252526
2009
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
18446368
2008
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
VHL type 2B mutations retain VBC complex form and function.
19030229
2008
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.
17350623
2007
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent.
14973063
2004
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
14722919
2004
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
15574766
2004
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.
14987375
2001
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.
10900011
2000
rs869025652
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
ERYTHROCYTOSIS, FAMILIAL, 2
A
0.700
CausalMutation
CLINVAR
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.
7977367
1994