Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329 1999
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849 2004
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032 1998
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692 1995
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279 2009
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 CausalMutation CLINVAR Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. 12807974 2003
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.800 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574 1993