FMR1, fragile X mental retardation 1, 2332

N. diseases: 288; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 GeneticVariation group BEFREE Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation. 25027833 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 GeneticVariation group BEFREE We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. 23211703 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 Biomarker group CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.330 GeneticVariation group BEFREE Abnormal development of specific brain regions characterizes a neuroanatomic phenotype associated with fragile X syndrome and may mediate the effects of FMR1 gene mutations on the cognitive and behavioral features of the disorder. 17932962 2008