Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Scoliosis, unspecified
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gait imbalance
|
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 | |||||
Intention tremor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Breathing dysregulation
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Loss of speech
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Generalized hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thyroiditis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Moderate global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Central hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Poor coordination
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic facies
|
0.700 | CausalMutation | CLINVAR | ||||||||
Appendicular hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Flatfoot
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental regression
|
0.700 | CausalMutation | CLINVAR | ||||||||
Autistic Disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Recurrent respiratory infections
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mental Retardation, X-Linked, Syndromic 13
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 |