Disease: Hypopigmentation disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.410 GeneticVariation disease BEFREE Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome. 25331754 2014
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.410 Biomarker disease CTD_human Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. 23222957 2013
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.410 Biomarker disease HPO