Disease: Overgrowth ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. 28960266 2017
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation 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
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. 25672921 2015
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. 25284784 2014
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. 22865819 2012
dbSNP: rs1555440555
rs1555440555
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR The Chd family of chromatin remodelers. 17350655 2007