Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. 31823155 2020
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 Biomarker disease BEFREE A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62.5%), tall stature (47%), developmental delay and/or intellectual disability (81%), ASDs (84%), sleep difficulties (50%), gastrointestinal problems (40%), and distinct facial features. 31001818 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus. 29768199 2018
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. 26834018 2016
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. 25735987 2015
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly. 25257502 2014
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 Biomarker disease BEFREE In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations. 25294932 2014
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 GeneticVariation disease BEFREE Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology. 23160955 2012
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.490 Biomarker disease HPO