FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Pain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030193
Disease: Pain
Pain 		0.020 AlteredExpression phenotype BEFREE This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. 24831882 2014
CUI: C0030193
Disease: Pain
Pain 		0.020 GeneticVariation phenotype BEFREE Female carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene frequently have widespread musculoskeletal pain and sometimes have been diagnosed with FM, especially if they have the motor signs of fragile X-associated tremor ataxia syndrome (FXTAS). 21926154 2011