| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
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
|
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
|
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
|
0.700 | CausalMutation | CLINVAR | Updating the profile of C-terminal MECP2 deletions in Rett syndrome. | 19914908 | 2010 | |||||
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
|
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
|
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
|
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
|
0.700 | CausalMutation | CLINVAR | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | 16473305 | 2006 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. | 14974082 | 2004 | |||||
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
|
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
|
0.700 | CausalMutation | CLINVAR | Preserved speech variants of the Rett syndrome: molecular and clinical analysis. | 11746022 | 2001 | |||||
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 | |||||
Intention tremor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Ataxia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Loss of speech
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental regression
|
0.700 | CausalMutation | CLINVAR | ||||||||
Secondary microcephaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Recurrent respiratory infections
|
0.700 | CausalMutation | CLINVAR | ||||||||
Head titubation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic facies
|
0.700 | CausalMutation | CLINVAR | ||||||||
Moderate global developmental delay
|
0.700 | CausalMutation | CLINVAR |