Source: INFERRED

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 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.600 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.600 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.600 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker HPO

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.130 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker HPO

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.120 CausalMutation CLINVAR

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