rs61749751, 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 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Rett syndrome: clinical manifestations in males with MECP2 mutations. 11913564 2002
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR