Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Hemangioblastomas and neurogenic polyglobulia. 23407287

2013
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability. 20855504

2010
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572

2010
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR [Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease]. 15002726

2004
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. 12510195

2003
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity. 11865071

2002
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs869025636
rs869025636
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR