FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Ataxia, Spinocerebellar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. 19235102 2009
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE FMR1 premutations are an uncommon cause of spinocerebellar ataxia. 18363164 2008
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE Since cerebellar ataxia is one of the main cardinal features, we performed FMR-1 premutation screening in 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative. 15483640 2005
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.040 GeneticVariation disease BEFREE PCR products containing CTG or CGG repeats from the spinocerebellar ataxia type I gene (SCA1) or the fragile X FMR1 gene, respectively, also showed higher electrophoretic mobility. 8519769 1995