DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Gene: VHL ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs864622109

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

7987306

1994

dbSNP:

rs864622109

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

9829911

1998

dbSNP:

rs864622109

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

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

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Genetic testing for cancer predisposition.

11160785

2001

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

24678776

2014

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

24466223

2014

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.

12500216

2003

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

18446368

2008

dbSNP:

rs786202787

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

9215674

1997

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

12114495

2002

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

7728151

1995

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.

22071692

2011

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.

24727139

2015

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface.

23102223

2012

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.

12050673

2002

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Effects of point mutations in pVHL on the binding of HIF-1α.

22105711

2012

dbSNP:

rs765978945

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.

12004076

2002

dbSNP:

rs730882039

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882037

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

27527340

2016

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

7728151

1995

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

9215674

1997

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

24466223

2014

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Germ-line mutations in nonsyndromic pheochromocytoma.

12000816

2002

dbSNP:

rs730882035

VHL

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

25371412

2014