Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.010 AlteredExpression disease BEFREE Western bolt analysis also showed a significant increase in both the protein levels and the phosphorylation of the key ER stress kinases, inositol-requiring enzyme 1α (IRE1α) and double stranded RNA activated protein kinase (PKR)-like ER kinase, as well as in levels of their downstream targets, X box-binding protein 1 (XBP1) and activating transcription factor 4, respectively, in GCD2 corneal fibroblasts. 27373828 2016