Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012