Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. 7553625

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 7563486

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. 7977367

1994
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR A novel mutation in the von Hippel-Lindau gene. 7987327

1994
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. 8550742

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. 8772572

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Identification of two sporadically derived mutations in the Von Hippel-Lindau gene. 8829648

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 9215674

1997
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 9215674

1997
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred. 9435426

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 9663592

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998