rs56268439, MECP2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. 11896461 2002