Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373

2011
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526

2009
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR PKCzetaII is a target for degradation through the tumour suppressor protein pVHL. 17350623

2007
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. 14722919

2004
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent. 14973063

2004
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene. 14987375

2001
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. 10900011

2000
dbSNP: rs5030818
rs5030818
VHL
T 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
dbSNP: rs5030818
rs5030818
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: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. 8956040

1996
dbSNP: rs5030818
rs5030818
VHL
T 0.800 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994