| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. | 27354166 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | MECP2 duplication: possible cause of severe phenotype in females. | 24458799 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. | 24399845 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Using a large international sample to investigate epilepsy in Rett syndrome. | 23421866 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Rett syndrome: revised diagnostic criteria and nomenclature. | 21154482 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. | 18337588 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Early progressive encephalopathy in boys and MECP2 mutations. | 16832102 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | 16169931 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Male Rett phenotypes in T158M and R294X MeCP2-mutations. | 17236109 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. | 15558314 | 2005 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. | 15057977 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). | 12615169 | 2003 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Epilepsy in a representative series of Rett syndrome. | 11227330 | 2001 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | DNA recognition by the methyl-CpG binding domain of MeCP2. | 11035019 | 2001 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Functional consequences of Rett syndrome mutations on human MeCP2. | 11058114 | 2000 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | 10508514 | 1999 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. | 8177735 | 1993 |