rs1554236054, ARID1B

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232 2014