| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. | 20846682 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. | 18836774 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein. | 14556007 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Germ-line mutations in nonsyndromic pheochromocytoma. | 12000816 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. | 11409863 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. | 10766184 | 2000 |
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|
G | 0.700 | CausalMutation | CLINVAR | The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. | 10567493 | 1999 |
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|
G | 0.700 | CausalMutation | CLINVAR | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. | 8956040 | 1996 |
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|
G | 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 |