| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. | 23772956 | 2013 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. | 19228690 | 2009 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells. | 18567581 | 2008 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. | 16452184 | 2006 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. | 15642680 | 2005 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. | 12844285 | 2003 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Germ-line mutations in nonsyndromic pheochromocytoma. | 12000816 | 2002 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. | 12414898 | 2002 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | GeneticVariation | BEFREE | A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease. | 12097293 | 2002 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. | 11331612 | 2001 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. | 8956040 | 1996 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. | 8772572 | 1996 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. | 7563486 | 1995 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | CausalMutation | CLINVAR | Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. | 7987306 | 1994 | |||||
Von Hippel-Lindau Syndrome
|
0.810 | GeneticVariation | UNIPROT |