UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Disease: Cystinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316899
Disease: Cystinosis
Cystinosis 		0.010 AlteredExpression disease BEFREE UNC13D upregulation corrected the defects in endolysosomal trafficking and decreased the number of accumulated autophagosomes in a cellular model of the lysosomal-storage disorder cystinosis, under both fed and starvation conditions, identifying UNC13D as an important new regulatory molecule of autophagy regulation in cells with lysosomal disorders. 30892133 2019