Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.030 AlteredExpression disease BEFREE Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental Retardation Protein), an RNA-binding protein involved in different steps of RNA metabolism. 24462888 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.030 GeneticVariation disease BEFREE Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to the silencing of the X-linked Fragile X Mental Retardation 1 gene encoding the RNA-binding protein FMRP. 21900387 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.030 GeneticVariation disease BEFREE Loss of the RNA-binding protein FMRP (fragile X mental retardation protein) leads to fragile X syndrome, the most common form of inherited mental retardation. 12594214 2003