DisGeNET - a database of gene-disease associations

Von Hippel-Lindau Syndrome, C0019562

Variant: rs1553619431 ×

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:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

27530247

2016

dbSNP:

rs1553619431

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:

rs1553619431

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:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma.

23036577

2013

dbSNP:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

Canadian guideline on genetic screening for hereditary renal cell cancers.

24319509

2013

dbSNP:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

BAP1 loss defines a new class of renal cell carcinoma.

22683710

2012

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.

22156657

2012

dbSNP:

rs1553619431

VHL

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:

rs1553619431

VHL

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:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

19996202

2009

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease compared to sporadic bilateral or multifocal renal cell carcinoma.

19949673

2009

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

19408298

2009

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

19996202

2009

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

17688370

2007

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Genotype-phenotype correlations in von Hippel-Lindau disease.

17024664

2007

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Genotype-phenotype correlations in von Hippel-Lindau disease.

17024664

2007

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

17688370

2007

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.

16488999

2006

dbSNP:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

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

16502427

2006

dbSNP:

rs1553619431

VHL

0.800

GeneticVariation

UNIPROT

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

15604628

2004

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

12624160

2003

dbSNP:

rs1553619431

VHL

0.800

CausalMutation

CLINVAR

Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas.

12853836

2003