Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.020 GeneticVariation group BEFREE Herein, we describe the OBSCN mutations known to date, discuss their potential impact on disease development, and provide future directions in order to better understand the involvement of obscurins in heart disease. 30099631 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.020 GeneticVariation group BEFREE Deregulated Ca<sup>2+</sup> cycling underlies the development of arrhythmia and heart disease due to mutant obscurin. 28630914 2017