Gene: ARID1B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437 2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR The ARID1B phenotype: what we have learned so far. 25169814 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR 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
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. 21801163 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 22405089 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B. 20086098 2010
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Autosomal dominant syndrome resembling Coffin-Siris syndrome. 16691594 2006
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 11170086 2001
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation group CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251 1984