DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×

Variant: rs5030822 ×

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:

rs5030822

VHL

CUI:	C1837915
Disease:	ERYTHROCYTOSIS, FAMILIAL, 2

ERYTHROCYTOSIS, FAMILIAL, 2

0.700

CausalMutation

CLINVAR

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

27527340

2016

dbSNP:

rs5030822

VHL

CUI:	C1837915
Disease:	ERYTHROCYTOSIS, FAMILIAL, 2

ERYTHROCYTOSIS, FAMILIAL, 2

0.700

CausalMutation

CLINVAR

The Warburg effect is genetically determined in inherited pheochromocytomas.

19763184

2009

dbSNP:

rs5030822

VHL

CUI:	C1837915
Disease:	ERYTHROCYTOSIS, FAMILIAL, 2

ERYTHROCYTOSIS, FAMILIAL, 2

0.700

CausalMutation

CLINVAR

Germline mutations in the von Hippel-Lindau gene in Italian patients.

19464396

2009

dbSNP:

rs5030822

VHL

CUI:	C1837915
Disease:	ERYTHROCYTOSIS, FAMILIAL, 2

ERYTHROCYTOSIS, FAMILIAL, 2

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in von Hippel-Lindau disease.

17024664

2007