Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | CausalMutation | disease | CLINVAR | MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. | 27255693 | 2016 | ||||
|
0.600 | GeneticVariation | disease | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | ||||
|
0.600 | CausalMutation | disease | CLINVAR | Refining the phenotype associated with MEF2C point mutations. | 23001426 | 2013 | ||||
|
0.600 | CausalMutation | disease | 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 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | 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 | ||||
|
0.600 | CausalMutation | disease | 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 | ||||
|
0.600 | CausalMutation | disease | CLINVAR | Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. | 19876902 | 2009 | ||||
|
0.600 | Biomarker | disease | CTD_human | |||||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND |