Disease: Multiple Epiphyseal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.010 Biomarker disease BEFREE We demonstrate that Armet and Creld2 are genotype-specific ER stress response proteins with substrate specificities, and that aggregation of mutant matrilin-3 is a key disease trigger in MED that could be exploited as a potential therapeutic target. 23956175 2013