Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. 21784903

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. 20583150

2010
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184

2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526

2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells. 19056893

2008
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. 16103922

2005
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. 12500216

2003
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. 11475579

2001
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker 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
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker CLINGEN Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. 1680799

1991