rs267608327, MECP2

N. diseases: 25
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 MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759 2013
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494 2013
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110 2011
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110 2011
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908 2010
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. 17142618 2006
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. 17142618 2006
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305 2006
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. 14974082 2004
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.700 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251 2004
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. 11913567 2002
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. 12325033 2002
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 11746022 2001
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
0.700 CausalMutation CLINVAR
Intention tremor
CUI: C4551520
Disease: Intention tremor
0.700 CausalMutation CLINVAR
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
0.700 CausalMutation CLINVAR
Loss of speech
CUI: C0542223
Disease: Loss of speech
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Thyroiditis
CUI: C0040147
Disease: Thyroiditis
0.700 CausalMutation CLINVAR
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
0.700 CausalMutation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR