VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165 2011
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 19494350 2009
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229 2008
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 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
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343 2006
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 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
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766 2004
dbSNP: rs28940298
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
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
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242 2003
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. 12415268 2002
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Congenital polycythemia in Chuvashia. 9058738 1997
dbSNP: rs28940298
rs28940298
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996