VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Hemangioma of retina ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154051
Disease: Hemangioma of retina
Hemangioma of retina 		0.030 GeneticVariation disease BEFREE VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene. 19649731 2009
CUI: C0154051
Disease: Hemangioma of retina
Hemangioma of retina 		0.030 Biomarker disease BEFREE We confirmed that the abnormal VHL genes were located in the "stromal" cells of the retinal angioma. 10379614 1999
CUI: C0154051
Disease: Hemangioma of retina
Hemangioma of retina 		0.030 GeneticVariation disease BEFREE VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. 10326959 1999