rs61750241, MECP2

N. diseases: 7
Disease: Mental Retardation, X-Linked, Syndromic 13 ×
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905 1999