DisGeNET - a database of gene-disease associations

VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215

Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

23772956

2013

dbSNP:

rs104893830

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: familial erythrocytosis.

22274579

2012

dbSNP:

rs104893831

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: familial erythrocytosis.

22274579

2012

dbSNP:

rs28940301

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: familial erythrocytosis.

22274579

2012

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

21606165

2011

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.

19494350

2009

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

19228690

2009

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

VHL type 2B mutations retain VBC complex form and function.

19030229

2008

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells.

18567581

2008

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

17992257

2007

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

16210343

2006

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

16452184

2006

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

15642680

2005

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

14726398

2004

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

15574766

2004

dbSNP:

rs104893830

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

12393546

2003

dbSNP:

rs104893830

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

12844285

2003

dbSNP:

rs104893831

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

12844285

2003

dbSNP:

rs104893831

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

12393546

2003

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

12393546

2003

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

12844285

2003

dbSNP:

rs28940298

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Endemic polycythemia in Russia: mutation in the VHL gene.

11987242

2003

dbSNP:

rs28940301

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

12844285

2003

dbSNP:

rs28940301

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

12393546

2003

dbSNP:

rs5030824

Entrez Id:	7428
Gene Symbol:	VHL

VHL

CUI:	C1837915
Disease:

ERYTHROCYTOSIS, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

12844285

2003