| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | CausalMutation | CLINVAR | Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. | 18580449 | 2008 |
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|
C | 0.800 | CausalMutation | CLINVAR | Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma. | 17906660 | 2007 |
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|
C | 0.800 | CausalMutation | CLINVAR | Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. | 15300849 | 2004 |
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|
C | 0.800 | CausalMutation | CLINVAR | High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. | 12624160 | 2003 |
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|
C | 0.800 | CausalMutation | CLINVAR | Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. | 12202531 | 2002 |
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|
C | 0.800 | 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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|
C | 0.800 | CausalMutation | CLINVAR | Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. | 9829912 | 1998 |
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|
C | 0.800 | 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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|
C | 0.800 | CausalMutation | CLINVAR | Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. | 7553625 | 1995 |
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|
C | 0.800 | CausalMutation | CLINVAR | Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. | 7987306 | 1994 |
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|
C | 0.800 | GeneticVariation | CLINVAR |