Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 Biomarker disease GENOMICS_ENGLAND A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 GeneticVariation disease BEFREE Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30770872 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 GeneticVariation disease BEFREE In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. 31737996 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 GeneticVariation disease BEFREE Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 31048695 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 GeneticVariation disease BEFREE CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.440 Biomarker disease HPO