ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.030 Biomarker disease BEFREE Blockade of autophagic activity by 3-MA or siRNA-mediated silencing of Atg5 resulted in decreases in LC3-II/LC3-I ratios, podocyte apoptosis and damage in the mice LN group. 29446059 2018
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.030 AlteredExpression disease BEFREE As elevated ATG5 expression was observed in systemic lupus erythematosus (SLE), the study was conducted to analyze the genome-wide genetic regulatory mechanisms associated with ATG5 expression in a Chinese population with lupus nephritis (LN).Methods. 26509176 2015
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.030 GeneticVariation disease BEFREE Although these rare variants were observed to be located in the flanking regions of exons instead of missense mutations, patients carrying them tended to have severe clinical phenotype, and in silicon analysis suggested their regulatory effects.Increased frequencies of rare variants of ATG5 were identified in patients with LN and SLE compared with healthy controls, highlighting a likely important role of rare ATG5 variants in Chinese SLE patients. 26039132 2015