ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Neurodevelopmental Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 GeneticVariation group BEFREE A young woman with NDD due to a de novo mutation in ARID1B now presented with a large renal (> 19 cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but no other signs of tuberous sclerosis complex. 31077186 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group BEFREE Our findings indicate that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and they add to the growing evidence that chromatin-remodeling defects are an important contributor to neurodevelopmental disorders. 22405089 2012