rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
|
25371412 |
2014 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.
|
23840444 |
2013 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
|
19280651 |
2009 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells.
|
18544564 |
2008 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
A novel Von Hippel-Lindau case with germline mutation at codon 167 (CGG to TGG) having endocrine microadenomatosis of the pancreas.
|
17406817 |
2007 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.
|
17526729 |
2007 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions.
|
16261165 |
2006 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Genetic testing in pheochromocytoma or functional paraganglioma.
|
16314641 |
2005 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
|
12510195 |
2003 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
The pressure rises: update on the genetics of phaeochromocytoma.
|
12351569 |
2002 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
|
11331612 |
2001 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
|
11483638 |
2001 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
|
11331613 |
2001 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
|
11709017 |
2001 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.
|
10900011 |
2000 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.
|
10878807 |
2000 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
|
10567493 |
1999 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma.
|
10458336 |
1999 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
|
8707293 |
1996 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.
|
7759077 |
1995 |
rs5030809
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
|
7987306 |
1994 |
rs5030809
|
|
C |
0.810 |
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 |