VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Varicosity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042345
Disease: Varicosity
Varicosity 		0.410 Biomarker disease GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469 2011
CUI: C0042345
Disease: Varicosity
Varicosity 		0.410 AlteredExpression disease BEFREE Here we show that with VHL gene transduction SY-SH5Y cells stably expressing the VHL protein had neurite-like processes with varicosities, showed the distinct expression of the neuronal markers neuropeptide Y and neurofilament 200, acquired regulated neurosecretion competence in response to depolarizing and cholinergic stimuli, and had large voltage-gated fast sodium currents and delayed rectifier potassium (Kv) currents compatible with those of functional neurons. 12460920 2002
CUI: C0042345
Disease: Varicosity
Varicosity 		0.410 Biomarker disease HPO