rs61750241, MECP2

N. diseases: 7
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
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 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. 19552836 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR MECP2 mutations in males. 17351020 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR MECP2 mutations in males. 17351020 2007
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006