FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Disease: Autistic Disorder ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Previously, we have screened autism probands for mutations in regions of the FMR1 gene downstream of the [CGG] repeat and identified an intronic variant in the FMR1 gene, IVS10 + 14C-T, which was present at a significantly higher frequency in autistic individuals compared to controls individuals. 14755444 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Both the normal subjects and the patients with autism have 53 CGG repeats in FMR1, and the majority have two interspersed AGG. 9806479 1998