DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1553620318 ×

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:

rs1553620318

VHL

0.700

GeneticVariation

CLINVAR

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

27811160

2016

dbSNP:

rs1553620318

VHL

0.700

GeneticVariation

CLINVAR

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

23102223

2012

dbSNP:

rs1553620318

VHL

0.700

GeneticVariation

CLINVAR

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

19270817

2009

dbSNP:

rs1553620318

VHL

0.700

GeneticVariation

CLINVAR

von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.

17102088

2006

dbSNP:

rs1553620318

VHL

0.700

GeneticVariation

CLINVAR

Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.

15607616

2004