Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE Importantly, we validated that elevating neural network activity requires protein translation and is dependent on fragile X mental retardation protein (FMRP), the protein that is deficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS). 29016848 2017
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE Fragile X syndrome is a common inherited cause of mental retardation that results from loss or mutation of the fragile X mental retardation protein (FMRP). 19097999 2009
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE The absence of fragile X mental retardation protein results in the fragile X syndrome (FXS), a common form of mental retardation associated with attention deficit, autistic behavior, and epileptic seizures. 18787232 2009
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 AlteredExpression disease BEFREE Fragile X (FRAX) syndrome is a commonly inherited form of mental retardation resulting from the lack of expression of the fragile X mental retardation protein (FMRP). 17661818 2007
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE Fragile X syndrome (FXS) is an inherited form of mental retardation that results from the loss of function of the fragile X mental retardation protein (FMRP). 16500716 2006
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE Lack of functional Fragile X mental retardation protein (FMRP) is the primary cause of the Fragile-mental retardation syndrome in humans. 15670167 2005
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 Biomarker disease BEFREE Molecular insights into mental retardation: multiple functions for the Fragile X mental retardation protein? 15119819 2004
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE The loss of the fragile X mental retardation protein (FMRP) is responsible for the most common cause of inherited mental retardation called the fragile X syndrome. 12867085 2004
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 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
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 GeneticVariation disease BEFREE The fragile-X mental retardation protein (FMRP) is greatly reduced or absent in individuals with fragile-X mental retardation syndrome, a common, heritable form of mental retardation. 11918288 2002
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.100 Biomarker disease BEFREE The 5' untranslated CGG repeat in the fragile X mental retardation-1 (FMR1) gene is expanded in families with fragile X syndrome, with more than 200 CGGs resulting in mental retardation due to the absence of the encoded fragile X mental retardation protein (FMRP). 11448936 2001