Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.020 AlteredExpression disease BEFREE After thoroughly analyzing the transcriptomic data and integrating them with those from other platforms, we found up-regulation of many genes encoding TFs for neuronal differentiation (WNT1, BMP4, POU3F4, TFAP2C, and PAX3), down-regulation of potassium channels (KCNA1, KCNC3, KCNG2, KCNIP4, KCNJ3, KCNK9, and KCNT1) and altered temporal regulation of SHANK1 and NNAT in FXS-iPSC derived neurons, indicating impaired neuronal differentiation and function in FXS patients. 27730449 2016
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.020 AlteredExpression disease BEFREE Due to their effect on spine morphology, altered translational regulation of Shank1 transcripts may contribute to the FXS pathology. 25692235 2014