DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Asymmetric crying face association ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.010 Biomarker disease BEFREE Starting at 24 h and continuing to 4 and 12 wk, with ACF there is TEM evidence of extensive mitochondrial clustering, IHC evidence of disorganization associated with desmin breakdown, and desmin protein cleavage verified by Western blot analysis and mass spectrometry. 28455287 2017