Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 Biomarker disease BEFREE Fragile X mental retardation gene (Fmr1) knock-out (KO) mice display core deficits of FXS, including abnormally increased sound-evoked responses, and show a delayed development of parvalbumin (PV) cells. 31698054 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts. 29595813 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. 29747568 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 AlteredExpression disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE Missense mutations in the FMR1 gene might account for a considerable proportion of cases in male patients with FXS-related symptoms, such as those linked to mental retardation and developmental delay. 25171808 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE In addition, we find that there is a 9‑fold greater likelihood of detecting clinically significant chromosomal aberrations than of detecting a full Fragile X mental retardation 1 (FMR1) gene CGG repeat expansion in cases referred on the basis of DD. 23525284 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 Biomarker disease BEFREE The propositus was the product of a 29-week gestation twin pregnancy and was referred for FMR1 testing due to developmental delay. 23949867 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 Biomarker disease BEFREE A literature review revealed rare cases with similar deletions that included IDS and FMR1 in females with developmental delay, variable features of Hunter syndrome, and skewed X-inactivation of the normal X chromosome. 23634718 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. 22549406 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 GeneticVariation disease BEFREE These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. 20799337 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.200 Biomarker disease HPO