Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. 18584357

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032

1998
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522

1999
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells. 18544564

2008
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail. 17060462

2007
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. 10878807

2000
dbSNP: rs397516444
rs397516444
VHL
T 0.800 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
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity. 11865071

2002
dbSNP: rs397516444
rs397516444
VHL
T 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009