ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease BEFREE BRIGHT Coaching: A Randomized Controlled Trial on the Effectiveness of a Developmental Coach System to Empower Families of Children With Emerging Developmental Delay. 31440489 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE We conclude that the most prominent and consistent clinical findings in patients with ARID1B haploinsufficiency are developmental delay, speech impairment and intellectual disability and propose that patients with unresolved genetic background and these clinical findings should be considered for ARID1B mutation screening. 25250687 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease CLINVAR