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: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? 19029228 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002