VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Polycythemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. 29172931 2017
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations in the Von Hippel-Lindau (vhl) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types. 26018559 2015
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. 24729484 2014
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell renal carcinoma (ccRCC). pVHL forms a ternary complex with elongin C and elongin B, critical for pVHL stability and function, which interacts with Cullin-2 and RING-box protein 1 to target hypoxia-inducible factor for polyubiquitination and proteasomal degradation. 24969085 2014
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 Biomarker disease BEFREE No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia. 23539726 2013
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. 23538339 2013
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. 23403324 2013
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Chuvash polycythemia is a rare congenital form of polycythemia caused by homozygous R200W and H191D mutations in the VHL (von Hippel-Lindau) gene, whose gene product is the principal negative regulator of hypoxia-inducible factor. 21685897 2011
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: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well. 20151405 2010
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 Biomarker disease MGD von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease LHGDN Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343 2006
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. 15921386 2005
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset. 15642680 2005
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease LHGDN Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546 2003
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Endemic polycythemia in Russia: mutation in the VHL gene. 11987242 2003
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285 2003
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 GeneticVariation disease BEFREE Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546 2003
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.700 Biomarker disease HPO