DisGeNET - a database of gene-disease associations

Von Hippel-Lindau Syndrome, C0019562

Variant: rs869025636 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869025636

VHL

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

VHL

0.800

CausalMutation

CLINVAR

Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

27527340

2016

dbSNP:

rs869025636

VHL

0.800

CausalMutation

CLINVAR

Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

12510195

2003

dbSNP:

rs869025636

VHL

0.800

CausalMutation

CLINVAR

Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability.

20855504

2010

dbSNP:

rs869025636

VHL

0.800

CausalMutation

CLINVAR

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

20660572

2010

dbSNP:

rs869025636

VHL

0.800

CausalMutation

CLINVAR

dbSNP:

rs869025636

VHL

0.800

CausalMutation

CLINVAR

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

7728151

1995

dbSNP:

rs869025636

VHL

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

VHL

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

VHL

0.800

CausalMutation

CLINVAR

Hemangioblastomas and neurogenic polyglobulia.

23407287

2013

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.

9452106

1998

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

8825918

1995

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

9829912

1998

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

9452032

1998

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

25394175

2015

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

8634692

1995

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

7728151

1995

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

16502427

2006

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

7987306

1994

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

8730290

1996

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.

10635329

1999

dbSNP:

rs869025636

VHL

0.800

GeneticVariation

UNIPROT

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

8956040

1996