VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918 1995
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184 2009
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. 1680799 1991
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. 16103922 2005
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells. 19056893 2008
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. 20583150 2010
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. 10458336 1999
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333 1995
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. 11475579 2001
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903 2011
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. 12500216 2003
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526 2009
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.900 Biomarker disease GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 Biomarker disease GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.500 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		0.500 Biomarker phenotype GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011