Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. | 27255693 | 2016 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. | 23389741 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 22495311 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. | 22498567 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. | 22670137 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. | 19592390 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. | 20513142 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. | 19471318 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells. | 18579729 | 2008 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | MEF2: a central regulator of diverse developmental programs. | 17959722 | 2007 |