ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
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 GeneticVariation disease BEFREE Here, we report a 69-year-old woman with CSS phenotype and a pathogenic ARID1B loss-of-function variant c.5259_5260dup. 30055038 2018
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE 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 GeneticVariation disease BEFREE We also provide, for the first time, a review of previously published ARID1B mutated patients with NCBRS and CSS phenotype and a computer-assisted dysmorphology analysis of NCBRS and ARID1B related CSS individuals, through the Face2Gene suite, confirming the existence of highly overlapping facial gestalt of both conditions. 31421289 2020
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. 22426309 2012
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE In cfDNA of CSS-affected individuals with heterozygous ARID1B mutations, we did not observe major changes in the nucleosome profile around transcription start sites. 31658463 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non-fermenting (SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. 23815551 2014
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. 30838730 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. 23637025 2013
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. 26376624 2015
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin-Siris syndrome. 30933046 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE ARID1B encodes a subunit of the BAF chromatin-remodeling complex, and mutations in multiple components of the BAF complex have been implicated as causes of Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, and non-syndromic intellectual disability. 27570168 2016
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		1.000 GeneticVariation disease BEFREE Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. 24569609 2014
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.600 GeneticVariation disease CLINVAR
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.520 GeneticVariation disease BEFREE Epigenetic regulators including KMT2C/MLL3 and ARID1B, which are mutated in >50% of hepatocellular carcinomas, were also mutated in liver metastases. 28892047 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.520 GeneticVariation disease BEFREE In conclusion, these results highlighted the significant genetic contribution of the ARID1B variant, rs73013281, to susceptibility for HCC, especially in interaction with physical activity. 28415691 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease UNIPROT
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.320 GeneticVariation disease BEFREE ARID1B alterations identify aggressive tumors in neuroblastoma. 28521285 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.320 GeneticVariation disease BEFREE Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 23202128 2013
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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.310 GeneticVariation disease BEFREE The presence of a congenital cataract and Hirschsprung disease in the presently reported patient further expands the phenotypic spectrum of patients with ARID1B mutations and may suggest the potential role of the BAF complex in the pathogenesis of the enteric neural system. 27511161 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.220 GeneticVariation group BEFREE A non-significant trend for association was also detected with severe family based hypertension in the BRIGHT sample (British). 19304780 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.220 GeneticVariation group BEFREE To assess if INPPL1 variants play a direct role in the development of essential hypertension, we genotyped the three previously associated INPPL1 polymorphisms in a cohort of 712 families with severe hypertension from the BRIGHT study transmission disequilibrium test cohort. 17557929 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.220 GeneticVariation disease BEFREE Several independent research groups, including our own, recently examined the effects of heterozygous deletion of Arid1b in mice and reported severe behavioral abnormalities reminiscent of autism spectrum disorders and intellectual disability as well as marked changes in gene expression and decreased body size. 30149092 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. 26376624 2015