Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.010 GeneticVariation disease BEFREE Previously, we showed that ATP hydrolysis removes RIG-I from lower-affinity self-RNAs (<xref ref-type="bibr" rid="bib19">Lässig et al., 2015</xref>), revealing how ATP turnover helps RIG-I distinguish viral from self-RNA and explaining why a mutation in a motif that slows down ATP hydrolysis causes the autoimmune disease Singleton-Merten syndrome (SMS). 30047865 2018