Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease. 24206762

2014
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. 24301059

2014
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526

2009
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. 18446368

2008
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR PKCzetaII is a target for degradation through the tumour suppressor protein pVHL. 17350623

2007
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. 14722919

2004
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 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: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene. 14987375

2001
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.700 CausalMutation CLINVAR Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. 10900011

2000
dbSNP: rs869025652
rs869025652
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 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