Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker CTD_human Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 Biomarker 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