ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 15; N. variants: 86
Disease: Coffin-Siris syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CLINGEN De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome. 31628733 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CLINGEN Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. 29184203 2017
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CLINGEN Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. 26340334 2015
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. 25294932 2014
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CLINGEN A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836 2013
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CTD_human Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker disease CTD_human Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment. 22426309 2012