Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 Biomarker group BEFREE This study delineates the clinical features associated with BRWD3 null variants and partial gene deletions, and suggests that BRWD3 should be included in the differential diagnosis of patients with an overgrowth-intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and/or obesity. 31714006 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 GeneticVariation group BEFREE ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. 30086552 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 Biomarker group GENOMICS_ENGLAND Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 Biomarker group BEFREE This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). 26323392 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 Biomarker group BEFREE Our work thus establishes a previously unknown negative regulation of H3.3 and advances our understanding of BRWD3-dependent intellectual disability. 25666827 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.350 GeneticVariation group BEFREE We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. 24462886 2014