Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835

2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663

2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker 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
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256

2004
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker 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