FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fibromyalgia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.040 GeneticVariation disease BEFREE Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. 28617938 2018
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.040 Biomarker disease BEFREE On the basis of our results an FMR1 screening among fibromyalgia female patients would not be recommended. 23111161 2013
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.040 GeneticVariation disease BEFREE We analyzed the FMR1 gene in a cohort of females diagnosed with fibromyalgia in order to assess the incidence of premutated alleles. 22903700 2012
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.040 GeneticVariation disease BEFREE Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. 21926154 2011