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: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Molecular basis of von Hippel-Lindau syndrome in Chinese patients. 21362373 2011
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849 2004
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995