Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.800 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.500 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		0.500 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0042345
Disease: Varicosity
Varicosity 		0.410 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		0.400 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.330 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.310 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater 		0.300 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1860392
Disease: Renal hemangioblastoma
Renal hemangioblastoma 		0.300 Biomarker GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.300 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.300 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		0.300 Biomarker GENOMICS_ENGLAND