Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR PKCzetaII is a target for degradation through the tumour suppressor protein pVHL. 17350623

2007
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene. 14987375

2001
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. 10900011

2000
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. 9447969

1998
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 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: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.700 CausalMutation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs5030814
rs5030814
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996