rs61749738, MECP2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609 2017
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.010 GeneticVariation BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609 2017