Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.020 AlteredExpression disease BEFREE Interestingly, upregulation or downregulation of retinoic acid (RA) signaling during embryogenesis also leads to developmental defects similar to those in CHARGE syndrome, suggesting that CHD7 and RA may have common target genes or signaling pathways. 29467333 2018
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.020 Biomarker disease BEFREE Modulation of retinoic acid (RA) signaling prevented in vivo inner ear and in vitro neural stem cell defects caused by Chd7 deficiency. 24026680 2014