Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 Biomarker group 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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 GeneticVariation group BEFREE The chromosomal abnormality observed in this family supports the presence of a DOR susceptibility locus in the distal Xq region and targets the POF1 region for further investigation. 21859812 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.030 GeneticVariation group BEFREE Cytogenetic abnormalities were found in 81 of 2,757 cases (2.93%) screened for both cytogenetic and FMR-1 mutations because of mental retardation from 1992 to 1997. 10495929 1999