| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Appendicular hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Autistic Disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Breathing dysregulation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Brisk reflexes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Central hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Ataxia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental regression
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic facies
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | 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 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | 17089071 | 2007 | |||||
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 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 | 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 | 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 | 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 | |||||
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 | |||||
Flatfoot
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gait imbalance
|
0.700 | CausalMutation | CLINVAR | ||||||||
Generalized hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Head titubation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Intention tremor
|
0.700 | CausalMutation | CLINVAR |