VHL

URI: https://gptkb.org/entity/VHL

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:associatedWith	gptkb:Von_Hippel-Lindau_disease
gptkbp:discoveredBy	gptkb:Gregg_L._Semenza gptkb:Peter_J._Ratcliffe gptkb:William_G._Kaelin_Jr.
gptkbp:encodes	gptkb:pVHL_protein
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000134086 7428
gptkbp:fullName	gptkb:Von_Hippel-Lindau_tumor_suppressor
gptkbp:function	gptkb:tumor_suppressor
gptkbp:HGNC_ID	12687
gptkbp:locatedOnChromosome	3p25.3
gptkbp:mutationAssociatedWith	gptkb:epididymal_cystadenoma gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:renal_cell_carcinoma gptkb:hereditary_cancer_syndrome gptkb:pheochromocytoma pancreatic cysts endolymphatic sac tumors
gptkbp:NobelPrizeYear	gptkb:2019_Nobel_Prize_in_Physiology_or_Medicine
gptkbp:OMIM	608537
gptkbp:orthologInMouse	gptkb:Vhlh
gptkbp:orthologInZebrafish	vhl
gptkbp:regulates	gptkb:hypoxia-inducible_factors_(HIFs)
gptkbp:UniProtID	P40337
gptkbp:bfsParent	gptkb:Virginia_Historic_Landmark gptkb:Chelmet_Chelyabinsk
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	VHL