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: rs104893831
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: rs104893831
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
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: rs104893831
rs104893831
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR