|
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
|
tumor suppressor
|
|
gptkbp:HGNC_ID
|
12687
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VHL
|
|
gptkbp:locatedOnChromosome
|
3p25.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:epididymal_cystadenoma
gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
hereditary cancer syndrome
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:Металлург_Новокузнецк
gptkb:ХК_Балашиха
gptkb:ХК_Кубань
gptkb:ХК_Ижсталь
gptkb:ХК_Рубин
|
|
gptkbp:bfsLayer
|
5
|