DisGeNET - a database of gene-disease associations

Von Hippel-Lindau Syndrome, C0019562

Variant: rs397516444 ×

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:

rs397516444

VHL

0.800

GeneticVariation

UNIPROT

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

9829911

1998

dbSNP:

rs397516444

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

dbSNP:

rs397516444

VHL

0.800

CausalMutation

CLINVAR

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

8956040

1996

dbSNP:

rs397516444

VHL

0.800

GeneticVariation

UNIPROT

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

8730290

1996

dbSNP:

rs397516444

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:

rs397516444

VHL

0.800

CausalMutation

CLINVAR

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

7728151

1995

dbSNP:

rs397516444

VHL

0.800

GeneticVariation

UNIPROT

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

7728151

1995

dbSNP:

rs397516444

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:

rs397516444

VHL

0.800

GeneticVariation

UNIPROT

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

8592333

1995

dbSNP:

rs397516444

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:

rs397516444

VHL

0.800

GeneticVariation

UNIPROT

Identification of the von Hippel-Lindau disease tumor suppressor gene.

8493574

1993

dbSNP:

rs397516444

VHL

0.800

CausalMutation

CLINVAR