VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Neurocutaneous Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.010 GeneticVariation disease BEFREE Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35. 30780037 2019