Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. 26754451 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. 25672921 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. 25284784 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. 22865819 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR The Chd family of chromatin remodelers. 17350655 2007