Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome
0.010 Biomarker disease BEFREE Our data support the idea that RBS can be attributed in part to defects in ribosome biogenesis, and stimulation of the TOR pathway has therapeutic potential. 24098154 2013