rs1566446604, CHD8

N. diseases: 6
Disease: Overgrowth ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012