DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: Dysautonomia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.010 Biomarker disease BEFREE Interestingly, dystonin is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-κ-B kinase complex-associated protein) mutation compared to fibroblasts of controls, suggesting that upregulation of dystonin is responsible for the milder course in familial dysautonomia. 22522446 2012