rs28934904, MECP2

N. diseases: 5
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE Compared to them, the p.R133C mutation, associated with a milder Rett phenotype, increased the risk for epilepsy (odds ratio [OR] 2.46, confidence interval [CI] 95% 1.3-4.66), but not for severe epilepsy. 25789914 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. 23421866 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C-terminal deletions P = 0.014, R133C P < 0.006). 16629931 2006